UK Parkinson's Disease Consortium (UKPDC)

About the Consortium

UK Parkinson's Disease Consortium (UKPDC) was a group of world-leading genetic, biochemical, clinical and other scientific researchers who possess complementary expertise, technology and other resources to identify and tackle the causes of Parkinson’s disease (PD).

UKPDC had three main goals:

• To undertake comprehensive genetic analysis of a large number of well characterised Parkinson's disease patients to identify rare variants and novel genes that cause and predispose to the disease.
• To understand the biochemistry of existing and novel causative Parkinson's disease gene products, and their pathways, to describe the regulation and function of these proteins.
• To collate the clinical traits of a large group of at-risk patients and to define the early Parkinson's disease symptoms, so that disease modifying treatments could be administered as early as possible.
• This research should yield crucial new knowledge of the pathways leading to neurodegeneration and shed insight into the causation of Parkinson's disease.

Background

• Parkinson's disease is a common neurodegenerative disease that afflicts more than 2 per cent of people aged over 75 years. In the UK, this means there are over 100 000 people with the disease: with the ageing population this number will increase. The annual cost in nursing-home care for Parkinson's disease alone in the UK is estimated to be about £600-800 million.
• Despite tremendous progress in the identification of genes associated with Parkinson’s and related disorders over the last decade, there is still only outline and sketchy information about the molecular pathways involved, and their constituents and their interactions.
• Finally, in order to really understand the pathway to human disease, and to be able to influence its progression, the earliest phase needs to be examined. Thus the consortium will also focus on developing understanding of the very early symptoms or warnings of the illness.
• The consortium hypothesises that there are multiple causes of Parkinson's, which result in a very small number of separate but converging biochemical pathways. These pathways interact with the molecular pathology of ageing and induce neuronal dysfunction and death, producing the characteristic pathological features of the condition.
• It will need to identify all the significant genetic risk factors, and place these molecules and their variants in their pathways to enable it to understand how the human disease begins and develops.
• To understand these pathways and mechanisms requires the establishment and integrated use of a range of models.
• The consortium aims to achieve a much fuller picture of all the major genetic factors that underlie Parkinson's. It will then identify and characterise the biochemical pathways that these genes determine, and explore their role in the development of disease. To dissect these mechanisms, the consortium has brought in expertise from mitochondrial biology, cell signalling and Drosophila biology to complement its other model systems.
• In parallel it will study the very earliest stages of the illness. It is widely believed that only by understanding these early phases will we be able to modify the disease course for the greatest clinical impact. To aid this work, the consortium has harnessed the clinical and biochemical resources of the national Gaucher's disease clinic. This will help it to build cohorts of individuals who are genetically at risk; detailed studies of these individuals will include imaging and biochemical assessments.
• Over five years, the consortium’s plan is to produce detailed knowledge of the molecular pathways that lead to Parkinson’s, and validated markers of its evolution.

Funding

The Wellcome Trust is one of the world's largest biomedical research charities and its mission is to foster and promote research with the aim of improving human and animal health.

http://www.wellcome.ac.uk/

The Medical Research Council is dedicated to improving human health through the best scientific research. Its work, on behalf of the UK taxpayer, ranges from molecular level science to public health medicine and understanding of the human body in health and disease. http://www.mrc.ac.uk/

As the UK's Parkinson's support and research charity we’re leading the work to find a cure, and we're closer than ever. We also campaign to change attitudes and demand better services.

http://www.parkinsons.org.uk

Principal Investigators

• Nicholas Wood
• John Hardy
• Anthony Schapira

Co-Investigators

• Dario Alessi 
• Alex Whitworth
• Andrey Abramov
• Kailash Bhatia
• J. Mark Cooper
• Michael Duchen
• Derralynn Hughes
• Andrew Lees
• Atul Mehta
• Tamas Revesz
• Jan-Willem Taanman
• Tarek Yousry

UKPDC news

Please see IoN news feed (select "Parkinson's Disease")

Publications

• Link to Google Scholar citations
• Link to Zotero library

2018

Balint, B., Vincent, A., Meinck, H.-M., Irani, S.R., Bhatia, K.P., 2018a. Movement disorders with neuronal antibodies: syndromic approach, genetic parallels and pathophysiology. Brain 141, 13–36. https://doi.org/10.1093/brain/awx189

Balint, B., Wiethoff, S., Martino, D., Del Gamba, C., Latorre, A., Ganos, C., Houlden, H., Bhatia, K.P., 2018b. Quick Flicks: Association of Paroxysmal Kinesigenic Dyskinesia and Tics. Mov Disord Clin Pract 5, 317–320. https://doi.org/10.1002/mdc3.12615

Blauwendraat, C., Kia, D.A., Pihlstrøm, L., Gan-Or, Z., Lesage, S., Gibbs, J.R., Ding, J., Alcalay, R.N., Hassin-Baer, S., Pittman, A.M., Brooks, J., Edsall, C., Chung, S.J., Goldwurm, S., Toft, M., Schulte, C., International Parkinson’s Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium, Hernandez, D., Singleton, A.B., Nalls, M.A., Brice, A., Scholz, S.W., Wood, N.W., 2018a. Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson’s disease. Neurobiol. Aging 64, 159.e5-159.e8. https://doi.org/10.1016/j.neurobiolaging.2017.12.012

Blauwendraat, C., Reed, X., Kia, D.A., Gan-Or, Z., Lesage, S., Pihlstrøm, L., Guerreiro, R., Gibbs, J.R., Sabir, M., Ahmed, S., Ding, J., Alcalay, R.N., Hassin-Baer, S., Pittman, A.M., Brooks, J., Edsall, C., Hernandez, D.G., Chung, S.J., Goldwurm, S., Toft, M., Schulte, C., Bras, J., Wood, N.W., Brice, A., Morris, H.R., Scholz, S.W., Nalls, M.A., Singleton, A.B., Cookson, M.R., COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease) Consortium, the French Parkinson’s Disease Consortium, and the International Parkinson’s Disease Genomics Consortium (IPDGC), 2018b. Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease. JAMA Neurol 75, 1416–1422. https://doi.org/10.1001/jamaneurol.2018.1885

Boot, E., Butcher, N.J., Udow, S., Marras, C., Mok, K.Y., Kaneko, S., Barrett, M.J., Prontera, P., Berman, B.D., Masellis, M., Dufournet, B., Nguyen, K., Charles, P., Mutez, E., Danaila, T., Jacquette, A., Colin, O., Drapier, S., Borg, M., Fiksinski, A.M., Vergaelen, E., Swillen, A., Vogels, A., Plate, A., Perandones, C., Gasser, T., Clerinx, K., Bourdain, F., Mills, K., Williams, N.M., Wood, N.W., Booij, J., Lang, A.E., Bassett, A.S., International Research Group on 22q11.2DS-associated Parkinson’s Disease, 2018. Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2. Neurology 90, e2059–e2067. https://doi.org/10.1212/WNL.0000000000005660

Brainstorm Consortium, Anttila, V., et al., 2018. Analysis of shared heritability in common disorders of the brain. Science 360. https://doi.org/10.1126/science.aap8757

Ferrari, R., Kia, D.A., Tomkins, J.E., Hardy, J., Wood, N.W., Lovering, R.C., Lewis, P.A., Manzoni, C., 2018. Stratification of candidate genes for Parkinson’s disease using weighted protein-protein interaction network analysis. BMC Genomics 19, 452. https://doi.org/10.1186/s12864-018-4804-9

Kia, D.A., Noyce, A.J., White, J., Speed, D., Nicolas, A., IPDGC collaborators, Burgess, S., Lawlor, D.A., Davey Smith, G., Singleton, A., Nalls, M.A., Sofat, R., Wood, N.W., 2018. Mendelian randomization study shows no causal relationship between circulating urate levels and Parkinson’s disease. Ann. Neurol. 84, 191–199. https://doi.org/10.1002/ana.25294

Manzoni, C., Kia, D.A., Vandrovcova, J., Hardy, J., Wood, N.W., Lewis, P.A., Ferrari, R., 2018a. Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences. Brief. Bioinformatics 19, 286–302. https://doi.org/10.1093/bib/bbw114

Manzoni, C., Mamais, A., Dihanich, S., Soutar, M.P.M., Plun-Favreau, H., Bandopadhyay, R., Abeti, R., Giunti, P., Hardy, J., R Cookson, M., Tooze, S.A., Lewis, P.A., 2018b. mTOR independent alteration in ULK1 Ser758 phosphorylation following chronic LRRK2 kinase inhibition. Biosci. Rep. 38. https://doi.org/10.1042/BSR20171669

Sassi, C., Nalls, M.A., Ridge, P.G., Gibbs, J.R., Lupton, M.K., Troakes, C., Lunnon, K., Al-Sarraj, S., Brown, K.S., Medway, C., Lord, J., Turton, J., Bras, J., ARUK Consortium, Blumenau, S., Thielke, M., Josties, C., Freyer, D., Dietrich, A., Hammer, M., Baier, M., Dirnagl, U., Morgan, K., Powell, J.F., Kauwe, J.S., Cruchaga, C., Goate, A.M., Singleton, A.B., Guerreiro, R., Hodges, A., Hardy, J., 2018. Mendelian adult-onset leukodystrophy genes in Alzheimer’s disease: critical influence of CSF1R and NOTCH3. Neurobiol. Aging 66, 179.e17-179.e29. https://doi.org/10.1016/j.neurobiolaging.2018.01.015

2017

Antipova, D., Bandopadhyay, R., 2017. Expression of DJ-1 in Neurodegenerative Disorders. Adv. Exp. Med. Biol. 1037, 25–43. https://doi.org/10.1007/978-981-10-6583-5_3

Bartolome, F., Esteras, N., Martin-Requero, A., Boutoleau-Bretonniere, C., Vercelletto, M., Gabelle, A., Le Ber, I., Honda, T., Dinkova-Kostova, A.T., Hardy, J., Carro, E., Abramov, A.Y., 2017. Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates. Sci Rep 7, 1666. https://doi.org/10.1038/s41598-017-01678-4

Beesley, C., Guerreiro, R.J., Bras, J.T., Williams, R.E., Taratuto, A.L., Eltze, C., Mole, S.E., 2017. CLN8 disease caused by large genomic deletions. Mol Genet Genomic Med 5, 85–91. https://doi.org/10.1002/mgg3.263

Blauwendraat, C., Faghri, F., Pihlstrom, L., Geiger, J.T., Elbaz, A., Lesage, S., Corvol, J.-C., May, P., Nicolas, A., Abramzon, Y., Murphy, N.A., Gibbs, J.R., Ryten, M., Ferrari, R., Bras, J., Guerreiro, R., Williams, J., Sims, R., Lubbe, S., Hernandez, D.G., Mok, K.Y., Robak, L., Campbell, R.H., Rogaeva, E., Traynor, B.J., Chia, R., Chung, S.J., International Parkinson’s Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium, Hardy, J.A., Brice, A., Wood, N.W., Houlden, H., Shulman, J.M., Morris, H.R., Gasser, T., Krüger, R., Heutink, P., Sharma, M., Simón-Sánchez, J., Nalls, M.A., Singleton, A.B., Scholz, S.W., 2017. NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases. Neurobiol. Aging 57, 247.e9-247.e13. https://doi.org/10.1016/j.neurobiolaging.2017.05.009

Carecchio, M., Mencacci, N.E., Iodice, A., Pons, R., Panteghini, C., Zorzi, G., Zibordi, F., Bonakis, A., Dinopoulos, A., Jankovic, J., Stefanis, L., Bhatia, K.P., Monti, V., R’Bibo, L., Veneziano, L., Garavaglia, B., Fusco, C., Wood, N., Stamelou, M., Nardocci, N., 2017. ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients. Parkinsonism Relat. Disord. 41, 37–43. https://doi.org/10.1016/j.parkreldis.2017.05.004

Delgado-Camprubi, M., Esteras, N., Soutar, M.P., Plun-Favreau, H., Abramov, A.Y., 2017. Deficiency of Parkinson’s disease-related gene Fbxo7 is associated with impaired mitochondrial metabolism by PARP activation. Cell Death Differ. 24, 120–131. https://doi.org/10.1038/cdd.2016.104

Ferrari, R., Lovering, R.C., Hardy, J., Lewis, P.A., Manzoni, C., 2017. Weighted Protein Interaction Network Analysis of Frontotemporal Dementia. J. Proteome Res. 16, 999–1013. https://doi.org/10.1021/acs.jproteome.6b00934

Gandhi, S., Plun-Favreau, H., 2017. Mutations and mechanism: how PINK1 may contribute to risk of sporadic Parkinson’s disease. Brain 140, 2–5. https://doi.org/10.1093/brain/aww320

Geissler, J.M., International Parkinson Disease Genomics Consortium members, Romanos, M., Gerlach, M., Berg, D., Schulte, C., 2017. No genetic association between attention-deficit/hyperactivity disorder (ADHD) and Parkinson’s disease in nine ADHD candidate SNPs. Atten Defic Hyperact Disord 9, 121–127. https://doi.org/10.1007/s12402-017-0219-8

Giri, A., Mok, K.Y., Jansen, I., Sharma, M., Tesson, C., Mangone, G., Lesage, S., Bras, J.M., Shulman, J.M., Sheerin, U.-M., International Parkinson’s Disease Consortium (IPDGC), Díez-Fairen, M., Pastor, P., Martí, M.J., Ezquerra, M., Tolosa, E., Correia-Guedes, L., Ferreira, J., Amin, N., van Duijn, C.M., van Rooij, J., Uitterlinden, A.G., Kraaij, R., Nalls, M., Simón-Sánchez, J., 2017. Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson’s disease in the Caucasian population. Neurobiol. Aging 50, 167.e11-167.e13. https://doi.org/10.1016/j.neurobiolaging.2016.10.004

Jansen, I.E., Gibbs, J.R., Nalls, M.A., Price, T.R., Lubbe, S., van Rooij, J., Uitterlinden, A.G., Kraaij, R., Williams, N.M., Brice, A., Hardy, J., Wood, N.W., Morris, H.R., Gasser, T., Singleton, A.B., Heutink, P., Sharma, M., International Parkinson’s Disease Genomics Consortium, 2017a. Establishing the role of rare coding variants in known Parkinson’s disease risk loci. Neurobiol. Aging 59, 220.e11-220.e18. https://doi.org/10.1016/j.neurobiolaging.2017.07.009

Jansen, I.E., Ye, H., Heetveld, S., Lechler, M.C., Michels, H., Seinstra, R.I., Lubbe, S.J., Drouet, V., Lesage, S., Majounie, E., Gibbs, J.R., Nalls, M.A., Ryten, M., Botia, J.A., Vandrovcova, J., Simon-Sanchez, J., Castillo-Lizardo, M., Rizzu, P., Blauwendraat, C., Chouhan, A.K., Li, Y., Yogi, P., Amin, N., van Duijn, C.M., International Parkinson’s Disease Genetics Consortium (IPGDC), Morris, H.R., Brice, A., Singleton, A.B., David, D.C., Nollen, E.A., Jain, S., Shulman, J.M., Heutink, P., 2017b. Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing. Genome Biol. 18, 22. https://doi.org/10.1186/s13059-017-1147-9

Lynch, D.S., Loh, S.H.Y., Harley, J., Noyce, A.J., Martins, L.M., Wood, N.W., Houlden, H., Plun-Favreau, H., 2017. Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations. Neurol Genet 3, e188. https://doi.org/10.1212/NXG.0000000000000188

Malek, N., Lawton, M.A., Grosset, K.A., Bajaj, N., Barker, R.A., Ben-Shlomo, Y., Burn, D.J., Foltynie, T., Hardy, J., Morris, H.R., Williams, N.M., Wood, N., Grosset, D.G., PRoBaND clinical consortium, 2017. Utility of the new Movement Disorder Society clinical diagnostic criteria for Parkinson’s disease applied retrospectively in a large cohort study of recent onset cases. Parkinsonism Relat. Disord. 40, 40–46. https://doi.org/10.1016/j.parkreldis.2017.04.006

Meyer, E., Carss, K.J., Rankin, J., Nichols, J.M.E., Grozeva, D., Joseph, A.P., Mencacci, N.E., Papandreou, A., Ng, J., Barral, S., Ngoh, A., Ben-Pazi, H., Willemsen, M.A., Arkadir, D., Barnicoat, A., Bergman, H., Bhate, S., Boys, A., Darin, N., Foulds, N., Gutowski, N., Hills, A., Houlden, H., Hurst, J.A., Israel, Z., Kaminska, M., Limousin, P., Lumsden, D., McKee, S., Misra, S., Mohammed, S.S., Nakou, V., Nicolai, J., Nilsson, M., Pall, H., Peall, K.J., Peters, G.B., Prabhakar, P., Reuter, M.S., Rump, P., Segel, R., Sinnema, M., Smith, M., Turnpenny, P., White, S.M., Wieczorek, D., Wiethoff, S., Wilson, B.T., Winter, G., Wragg, C., Pope, S., Heales, S.J.H., Morrogh, D., UK10K Consortium, Deciphering Developmental Disorders Study, NIHR BioResource Rare Diseases Consortium, Pittman, A., Carr, L.J., Perez-Dueñas, B., Lin, J.-P., Reis, A., Gahl, W.A., Toro, C., Bhatia, K.P., Wood, N.W., Kamsteeg, E.-J., Chong, W.K., Gissen, P., Topf, M., Dale, R.C., Chubb, J.R., Raymond, F.L., Kurian, M.A., 2017. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat. Genet. 49, 223–237. https://doi.org/10.1038/ng.3740

Murthy, M.N., Blauwendraat, C., UKBEC, Guelfi, S., IPDGC, Hardy, J., Lewis, P.A., Trabzuni, D., 2017. Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson’s disease on chromosome 7p15.3. Neurogenetics 18, 121–133. https://doi.org/10.1007/s10048-017-0514-8

Noyce, A.J., Kia, D.A., Hemani, G., Nicolas, A., Price, T.R., De Pablo-Fernandez, E., Haycock, P.C., Lewis, P.A., Foltynie, T., Davey Smith, G., International Parkinson Disease Genomics Consortium, Schrag, A., Lees, A.J., Hardy, J., Singleton, A., Nalls, M.A., Pearce, N., Lawlor, D.A., Wood, N.W., 2017a. Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation study. PLoS Med. 14, e1002314. https://doi.org/10.1371/journal.pmed.1002314

Noyce, A.J., R’Bibo, L., Peress, L., Bestwick, J.P., Adams-Carr, K.L., Mencacci, N.E., Hawkes, C.H., Masters, J.M., Wood, N., Hardy, J., Giovannoni, G., Lees, A.J., Schrag, A., 2017b. PREDICT-PD: An online approach to prospectively identify risk indicators of Parkinson’s disease. Mov. Disord. 32, 219–226. https://doi.org/10.1002/mds.26898

Noyce, A.J., Schrag, A., Masters, J.M., Bestwick, J.P., Giovannoni, G., Lees, A.J., 2017c. Subtle motor disturbances in PREDICT-PD participants. J. Neurol. Neurosurg. Psychiatry 88, 212–217. https://doi.org/10.1136/jnnp-2016-314524

Robak, L.A., Jansen, I.E., van Rooij, J., Uitterlinden, A.G., Kraaij, R., Jankovic, J., International Parkinson’s Disease Genomics Consortium (IPDGC), Heutink, P., Shulman, J.M., 2017. Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease. Brain 140, 3191–3203. https://doi.org/10.1093/brain/awx285

Rott, R., Szargel, R., Shani, V., Hamza, H., Savyon, M., Abd Elghani, F., Bandopadhyay, R., Engelender, S., 2017. SUMOylation and ubiquitination reciprocally regulate α-synuclein degradation and pathological aggregation. Proc. Natl. Acad. Sci. U.S.A. 114, 13176–13181. https://doi.org/10.1073/pnas.1704351114

Witoelar, A., Jansen, I.E., Wang, Y., Desikan, R.S., Gibbs, J.R., Blauwendraat, C., Thompson, W.K., Hernandez, D.G., Djurovic, S., Schork, A.J., Bettella, F., Ellinghaus, D., Franke, A., Lie, B.A., McEvoy, L.K., Karlsen, T.H., Lesage, S., Morris, H.R., Brice, A., Wood, N.W., Heutink, P., Hardy, J., Singleton, A.B., Dale, A.M., Gasser, T., Andreassen, O.A., Sharma, M., International Parkinson’s Disease Genomics Consortium (IPDGC), North American Brain Expression Consortium (NABEC), and United Kingdom Brain Expression Consortium (UKBEC) Investigators, 2017. Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases. JAMA Neurol 74, 780–792. https://doi.org/10.1001/jamaneurol.2017.0469

2016

Adams-Carr, K.L., Bestwick, J.P., Shribman, S., Lees, A., Schrag, A., Noyce, A.J., 2016. Constipation preceding Parkinson’s disease: a systematic review and meta-analysis. J. Neurol. Neurosurg. Psychiatry 87, 710–716. https://doi.org/10.1136/jnnp-2015-311680

Angelova, P.R., Ludtmann, M.H.R., Horrocks, M.H., Negoda, A., Cremades, N., Klenerman, D., Dobson, C.M., Wood, N.W., Pavlov, E.V., Gandhi, S., Abramov, A.Y., 2016. Ca2+ is a key factor in α-synuclein-induced neurotoxicity. J. Cell. Sci. 129, 1792–1801. https://doi.org/10.1242/jcs.180737

Bandrés-Ciga, S., Mencacci, N.E., Durán, R., Barrero, F.J., Escamilla-Sevilla, F., Morgan, S., Hehir, J., Vives, F., Hardy, J., Pittman, A.M., 2016. Analysis of the genetic variability in Parkinson’s disease from Southern Spain. Neurobiol. Aging 37, 210.e1-210.e5. https://doi.org/10.1016/j.neurobiolaging.2015.09.020

Berezhnov, A.V., Soutar, M.P.M., Fedotova, E.I., Frolova, M.S., Plun-Favreau, H., Zinchenko, V.P., Abramov, A.Y., 2016. Intracellular pH Modulates Autophagy and Mitophagy. J. Biol. Chem. 291, 8701–8708. https://doi.org/10.1074/jbc.M115.691774

Bettencourt, C., Forabosco, P., Wiethoff, S., Heidari, M., Johnstone, D.M., Botía, J.A., Collingwood, J.F., Hardy, J., UK Brain Expression Consortium (UKBEC), Milward, E.A., Ryten, M., Houlden, H., 2016. Gene co-expression networks shed light into diseases of brain iron accumulation. Neurobiol. Dis. 87, 59–68. https://doi.org/10.1016/j.nbd.2015.12.004

Charlesworth, G., Balint, B., Mencacci, N.E., Carr, L., Wood, N.W., Bhatia, K.P., 2016. SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy. Mov. Disord. 31, 1249–1251. https://doi.org/10.1002/mds.26716

Deas, E., Cremades, N., Angelova, P.R., Ludtmann, M.H.R., Yao, Z., Chen, S., Horrocks, M.H., Banushi, B., Little, D., Devine, M.J., Gissen, P., Klenerman, D., Dobson, C.M., Wood, N.W., Gandhi, S., Abramov, A.Y., 2016. Alpha-Synuclein Oligomers Interact with Metal Ions to Induce Oxidative Stress and Neuronal Death in Parkinson’s Disease. Antioxid. Redox Signal. 24, 376–391. https://doi.org/10.1089/ars.2015.6343

Esteras, N., Dinkova-Kostova, A.T., Abramov, A.Y., 2016. Nrf2 activation in the treatment of neurodegenerative diseases: a focus on its role in mitochondrial bioenergetics and function. Biol. Chem. 397, 383–400. https://doi.org/10.1515/hsz-2015-0295

Ferrari, R., Forabosco, P., Vandrovcova, J., Botía, J.A., Guelfi, S., Warren, J.D., UK Brain Expression Consortium (UKBEC), Momeni, P., Weale, M.E., Ryten, M., Hardy, J., 2016. Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis. Mol Neurodegener 11, 21. https://doi.org/10.1186/s13024-016-0085-4

Foulger, R.E., Denny, P., Hardy, J., Martin, M.J., Sawford, T., Lovering, R.C., 2016. Using the Gene Ontology to Annotate Key Players in Parkinson’s Disease. Neuroinformatics 14, 297–304. https://doi.org/10.1007/s12021-015-9293-2

Guerreiro, R., Brás, J., Batista, S., Pires, P., Ribeiro, M.H., Almeida, M.R., Oliveira, C., Hardy, J., Santana, I., 2016. Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation. Genes Brain Behav. 15, 669–677. https://doi.org/10.1111/gbb.12308

Guerreiro, Rita, Escott-Price, V., Darwent, L., Parkkinen, L., Ansorge, O., Hernandez, D.G., Nalls, M.A., Clark, L., Honig, L., Marder, K., van der Flier, W., Holstege, H., Louwersheimer, E., Lemstra, A., Scheltens, P., Rogaeva, E., St George-Hyslop, P., Londos, E., Zetterberg, H., Ortega-Cubero, S., Pastor, P., Ferman, T.J., Graff-Radford, N.R., Ross, O.A., Barber, I., Braae, A., Brown, K., Morgan, K., Maetzler, W., Berg, D., Troakes, C., Al-Sarraj, S., Lashley, T., Compta, Y., Revesz, T., Lees, A., Cairns, N.J., Halliday, G.M., Mann, D., Pickering-Brown, S., Powell, J., Lunnon, K., Lupton, M.K., International Parkinson’s Disease Genomics Consortium (IPDGC), Dickson, D., Hardy, J., Singleton, A., Bras, J., 2016. Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson’s and Alzheimer’s diseases. Neurobiol. Aging 38, 214.e7-214.e10. https://doi.org/10.1016/j.neurobiolaging.2015.10.028

Iljina, M., Garcia, G.A., Horrocks, M.H., Tosatto, L., Choi, M.L., Ganzinger, K.A., Abramov, A.Y., Gandhi, S., Wood, N.W., Cremades, N., Dobson, C.M., Knowles, T.P.J., Klenerman, D., 2016. Kinetic model of the aggregation of alpha-synuclein provides insights into prion-like spreading. Proc. Natl. Acad. Sci. U.S.A. 113, E1206-1215. https://doi.org/10.1073/pnas.1524128113

Kara, E., Tucci, A., Manzoni, C., Lynch, D.S., Elpidorou, M., Bettencourt, C., Chelban, V., Manole, A., Hamed, S.A., Haridy, N.A., Federoff, M., Preza, E., Hughes, D., Pittman, A., Jaunmuktane, Z., Brandner, S., Xiromerisiou, G., Wiethoff, S., Schottlaender, L., Proukakis, C., Morris, H., Warner, T., Bhatia, K.P., Korlipara, L.V.P., Singleton, A.B., Hardy, J., Wood, N.W., Lewis, P.A., Houlden, H., 2016. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain 139, 1904–1918. https://doi.org/10.1093/brain/aww111

Lesage, S., Drouet, V., Majounie, E., Deramecourt, V., Jacoupy, M., Nicolas, A., Cormier-Dequaire, F., Hassoun, S.M., Pujol, C., Ciura, S., Erpapazoglou, Z., Usenko, T., Maurage, C.-A., Sahbatou, M., Liebau, S., Ding, J., Bilgic, B., Emre, M., Erginel-Unaltuna, N., Guven, G., Tison, F., Tranchant, C., Vidailhet, M., Corvol, J.-C., Krack, P., Leutenegger, A.-L., Nalls, M.A., Hernandez, D.G., Heutink, P., Gibbs, J.R., Hardy, J., Wood, N.W., Gasser, T., Durr, A., Deleuze, J.-F., Tazir, M., Destée, A., Lohmann, E., Kabashi, E., Singleton, A., Corti, O., Brice, A., French Parkinson’s Disease Genetics Study (PDG), International Parkinson’s Disease Genomics Consortium (IPDGC), 2016. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. Am. J. Hum. Genet. 98, 500–513. https://doi.org/10.1016/j.ajhg.2016.01.014

Lubbe, Steven J., Escott-Price, V., Brice, A., Gasser, T., Hardy, J., Heutink, P., Sharma, M., Wood, N.W., Nalls, M., Singleton, A.B., Williams, N.M., Morris, H.R., for the International Parkinson’s Disease Genomics Consortium, 2016a. Is the MC1R variant p.R160W associated with Parkinson’s? Annals of Neurology 79, 159–161. https://doi.org/10.1002/ana.24527

Lubbe, S. J., Escott-Price, V., Brice, A., Gasser, T., Pittman, A.M., Bras, J., Hardy, J., Heutink, P., Wood, N.M., Singleton, A.B., Grosset, D.G., Carroll, C.B., Law, M.H., Demenais, F., Iles, M.M., Melanoma Meta-Analysis Consortium, Bishop, D.T., Newton-Bishop, J., Williams, N.M., Morris, H.R., International Parkinson’s Disease Genomics Consortium, 2016. Rare variants analysis of cutaneous malignant melanoma genes in Parkinson’s disease. Neurobiol. Aging 48, 222.e1-222.e7. https://doi.org/10.1016/j.neurobiolaging.2016.07.013

Lubbe, Steven J., Escott-Price, V., Gibbs, J.R., Nalls, M.A., Bras, J., Price, T.R., Nicolas, A., Jansen, I.E., Mok, K.Y., Pittman, A.M., Tomkins, J.E., Lewis, P.A., Noyce, A.J., Lesage, S., Sharma, M., Schiff, E.R., Levine, A.P., Brice, A., Gasser, T., Hardy, J., Heutink, P., Wood, N.W., Singleton, A.B., Williams, N.M., Morris, H.R., for International Parkinson’s Disease Genomics Consortium, 2016b. Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance. Hum. Mol. Genet. 25, 5483–5489. https://doi.org/10.1093/hmg/ddw348

Ludtmann, M.H.R., Angelova, P.R., Ninkina, N.N., Gandhi, S., Buchman, V.L., Abramov, A.Y., 2016. Monomeric Alpha-Synuclein Exerts a Physiological Role on Brain ATP Synthase. J. Neurosci. 36, 10510–10521. https://doi.org/10.1523/JNEUROSCI.1659-16.2016

Lynch, D.S., Wood, N.W., Houlden, H., 2016. Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A. Neurol Genet 2, e101. https://doi.org/10.1212/NXG.0000000000000101

Malek, N., Swallow, D.M.A., Grosset, K.A., Lawton, M.A., Smith, C.R., Bajaj, N.P., Barker, R.A., Ben-Shlomo, Y., Bresner, C., Burn, D.J., Foltynie, T., Morris, H.R., Williams, N., Wood, N.W., Grosset, D.G., PRoBaND Investigators, 2016. Olfaction in Parkin single and compound heterozygotes in a cohort of young onset Parkinson’s disease patients. Acta Neurol. Scand. 134, 271–276. https://doi.org/10.1111/ane.12538

Manzoni, C., Mamais, A., Roosen, D.A., Dihanich, S., Soutar, M.P.M., Plun-Favreau, H., Bandopadhyay, R., Hardy, J., Tooze, S.A., Cookson, M.R., Lewis, P.A., 2016. mTOR independent regulation of macroautophagy by Leucine Rich Repeat Kinase 2 via Beclin-1. Sci Rep 6, 35106. https://doi.org/10.1038/srep35106

Mencacci, N.E., Kamsteeg, E.-J., Nakashima, K., R’Bibo, L., Lynch, D.S., Balint, B., Willemsen, M.A.A.P., Adams, M.E., Wiethoff, S., Suzuki, K., Davies, C.H., Ng, J., Meyer, E., Veneziano, L., Giunti, P., Hughes, D., Raymond, F.L., Carecchio, M., Zorzi, G., Nardocci, N., Barzaghi, C., Garavaglia, B., Salpietro, V., Hardy, J., Pittman, A.M., Houlden, H., Kurian, M.A., Kimura, H., Vissers, L.E.L.M., Wood, N.W., Bhatia, K.P., 2016. De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. Am. J. Hum. Genet. 98, 763–771. https://doi.org/10.1016/j.ajhg.2016.02.015

Mok, K.Y., Sheerin, U., Simón-Sánchez, J., Salaka, A., Chester, L., Escott-Price, V., Mantripragada, K., Doherty, K.M., Noyce, A.J., Mencacci, N.E., Lubbe, S.J., International Parkinson’s Disease Genomics Consortium (IPDGC), Williams-Gray, C.H., Barker, R.A., van Dijk, K.D., Berendse, H.W., Heutink, P., Corvol, J.-C., Cormier, F., Lesage, S., Brice, A., Brockmann, K., Schulte, C., Gasser, T., Foltynie, T., Limousin, P., Morrison, K.E., Clarke, C.E., Sawcer, S., Warner, T.T., Lees, A.J., Morris, H.R., Nalls, M.A., Singleton, A.B., Hardy, J., Abramov, A.Y., Plagnol, V., Williams, N.M., Wood, N.W., 2016. Deletions at 22q11.2 in idiopathic Parkinson’s disease: a combined analysis of genome-wide association data. Lancet Neurol 15, 585–596. https://doi.org/10.1016/S1474-4422(16)00071-5

Sailer, A., Scholz, S.W., Nalls, M.A., Schulte, C., Federoff, M., Price, T.R., Lees, A., Ross, O.A., Dickson, D.W., Mok, K., Mencacci, N.E., Schottlaender, L., Chelban, V., Ling, H., O’Sullivan, S.S., Wood, N.W., Traynor, B.J., Ferrucci, L., Federoff, H.J., Mhyre, T.R., Morris, H.R., Deuschl, G., Quinn, N., Widner, H., Albanese, A., Infante, J., Bhatia, K.P., Poewe, W., Oertel, W., Höglinger, G.U., Wüllner, U., Goldwurm, S., Pellecchia, M.T., Ferreira, J., Tolosa, E., Bloem, B.R., Rascol, O., Meissner, W.G., Hardy, J.A., Revesz, T., Holton, J.L., Gasser, T., Wenning, G.K., Singleton, A.B., Houlden, H., European Multiple System Atrophy Study Group and the UK Multiple System Atrophy Study Group, 2016. A genome-wide association study in multiple system atrophy. Neurology 87, 1591–1598. https://doi.org/10.1212/WNL.0000000000003221

Sassi, C., Nalls, M.A., Ridge, P.G., Gibbs, J.R., Ding, J., Lupton, M.K., Troakes, C., Lunnon, K., Al-Sarraj, S., Brown, K.S., Medway, C., Clement, N., Lord, J., Turton, J., Bras, J., Almeida, M.R., ARUK Consortium, Holstege, H., Louwersheimer, E., van der Flier, W.M., Scheltens, P., Van Swieten, J.C., Santana, I., Oliveira, C., Morgan, K., Powell, J.F., Kauwe, J.S., Cruchaga, C., Goate, A.M., Singleton, A.B., Guerreiro, R., Hardy, J., 2016a. ABCA7 p.G215S as potential protective factor for Alzheimer’s disease. Neurobiol. Aging 46, 235.e1–9. https://doi.org/10.1016/j.neurobiolaging.2016.04.004

Sassi, C., Ridge, P.G., Nalls, M.A., Gibbs, R., Ding, J., Lupton, M.K., Troakes, C., Lunnon, K., Al-Sarraj, S., Brown, K.S., Medway, C., Lord, J., Turton, J., ARUK Consortium, Morgan, K., Powell, J.F., Kauwe, J.S., Cruchaga, C., Bras, J., Goate, A.M., Singleton, A.B., Guerreiro, R., Hardy, J., 2016b. Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer’s Disease. PLoS ONE 11, e0150079. https://doi.org/10.1371/journal.pone.0150079

Swallow, D.M.A., Lawton, M.A., Grosset, K.A., Malek, N., Smith, C.R., Bajaj, N.P., Barker, R.A., Ben-Shlomo, Y., Burn, D.J., Foltynie, T., Hardy, J., Morris, H.R., Williams, N., Wood, N.W., Grosset, D.G., PRoBaND Clinical Consortium, 2016. Variation in Recent Onset Parkinson’s Disease: Implications for Prodromal Detection. J Parkinsons Dis 6, 289–300. https://doi.org/10.3233/JPD-150741

2015

Angelova, P.R., Horrocks, M.H., Klenerman, D., Gandhi, S., Abramov, A.Y., Shchepinov, M.S., 2015. Lipid peroxidation is essential for a-synuclein-induced cell death. J. Neurochem. 133, 582–589. https://doi.org/10.1111/jnc.13024

Beavan, M., McNeill, A., Proukakis, C., Hughes, D.A., Mehta, A., Schapira, A.H.V., 2015. Evolution of Prodromal Clinical Markers of Parkinson Disease in a GBA Mutation-Positive Cohort. JAMA Neurol 72, 201–208. https://doi.org/10.1001/jamaneurol.2014.2950

Boutoleau-Bretonnière, C., Camuzat, A., Le Ber, I., Bouya-Ahmed, K., Guerreiro, R., Deruet, A.-L., Evrard, C., Bras, J., Lamy, E., Auffray-Calvier, E., Pallardy, A., Hardy, J., Brice, A., Derkinderen, P., Vercelletto, M., 2015. A Phenotype of Atypical Apraxia of Speech in a Family Carrying SQSTM1 Mutation. Journal of Alzheimer’s Disease 43, 625–630. https://doi.org/10.3233/JAD-141512.

Bras, J., Alonso, I., Barbot, C., Costa, M.M., Darwent, L., Orme, T., Sequeiros, J., Hardy, J., Coutinho, P., Guerreiro, R., 2015. Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4. The American Journal of Human Genetics 96, 474–479. https://doi.org/10.1016/j.ajhg.2015.01.005

Charlesworth, G., Angelova, P.R., Bartolomé-Robledo, F., Ryten, M., Trabzuni, D., Stamelou, M., Abramov, A.Y., Bhatia, K.P., Wood, N.W., 2015. Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia. The American Journal of Human Genetics 96, 657–665. https://doi.org/10.1016/j.ajhg.2015.02.007

Chen, S.W., Drakulic, S., Deas, E., Ouberai, M., Aprile, F.A., Arranz, R., Ness, S., Roodveldt, C., Guilliams, T., De-Genst, E.J., Klenerman, D., Wood, N.W., Knowles, T.P.J., Alfonso, C., Rivas, G., Abramov, A.Y., Valpuesta, J.M., Dobson, C.M., Cremades, N., 2015. Structural characterization of toxic oligomers that are kinetically trapped during a-synuclein fibril formation. Proc. Natl. Acad. Sci. U.S.A. 112, E1994–2003. https://doi.org/10.1073/pnas.1421204112

Escott-Price, V., International Parkinson’s Disease Genomics Consortium, Nalls, M.A., Morris, H.R., Lubbe, S., Brice, A., Gasser, T., Heutink, P., Wood, N.W., Hardy, J., Singleton, A.B., Williams, N.M., IPDGC consortium members, 2015. Polygenic risk of Parkinson disease is correlated with disease age at onset. Ann. Neurol. 77, 582–591. https://doi.org/10.1002/ana.24335

Ferrari, R., Grassi, M., Salvi, E., Borroni, B., Palluzzi, F., Pepe, D., D’Avila, F., Padovani, A., Archetti, S., Rainero, I., Rubino, E., Pinessi, L., Benussi, L., Binetti, G., Ghidoni, R., Galimberti, D., Scarpini, E., Serpente, M., Rossi, G., Giaccone, G., Tagliavini, F., Nacmias, B., Piaceri, I., Bagnoli, S., Bruni, A.C., Maletta, R.G., Bernardi, L., Postiglione, A., Milan, G., Franceschi, M., Puca, A.A., Novelli, V., Barlassina, C., Glorioso, N., Manunta, P., Singleton, A., Cusi, D., Hardy, J., Momeni, P., 2015. A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia. Neurobiol. Aging 36, 2904.e13–26. https://doi.org/10.1016/j.neurobiolaging.2015.06.005

Gegg, M.E., Sweet, L., Wang, B.H., Shihabuddin, L.S., Sardi, S.P., Schapira, A.H.V., 2015. No evidence for substrate accumulation in Parkinson brains with GBA mutations. Mov. Disord. 30, 1085–1089. https://doi.org/10.1002/mds.26278

Guerreiro, R., Bras, J., Toombs, J., Heslegrave, A., Hardy, J., Zetterberg, H., 2015. Genetic Variants and Related Biomarkers in Sporadic Alzheimer’s Disease. Curr Genet Med Rep 3, 19–25. https://doi.org/10.1007/s40142-014-0062-6

Kiely, A.P., Ling, H., Asi, Y.T., Kara, E., Proukakis, C., Schapira, A.H., Morris, H.R., Roberts, H.C., Lubbe, S., Limousin, P., Lewis, P.A., Lees, A.J., Quinn, N., Hardy, J., Love, S., Revesz, T., Houlden, H., Holton, J.L., 2015. Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation. Mol Neurodegener 10, 41. https://doi.org/10.1186/s13024-015-0038-3

Kinghorn, K.J., Castillo-Quan, J.I., Bartolome, F., Angelova, P.R., Li, L., Pope, S., Cochemé, H.M., Khan, S., Asghari, S., Bhatia, K.P., Hardy, J., Abramov, A.Y., Partridge, L., 2015. Loss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction. Brain 138, 1801–1816. https://doi.org/10.1093/brain/awv132

Kovac, S., Angelova, P.R., Holmström, K.M., Zhang, Y., Dinkova-Kostova, A.T., Abramov, A.Y., 2015. Nrf2 regulates ROS production by mitochondria and NADPH oxidase. Biochim. Biophys. Acta 1850, 794–801. https://doi.org/10.1016/j.bbagen.2014.11.021

Kun-Rodrigues, C., Ganos, C., Guerreiro, R., Schneider, S.A., Schulte, C., Lesage, S., Darwent, L., Holmans, P., Singleton, A., International Parkinson’s Disease Genomics Consortium (IPDGC), Bhatia, K., Bras, J., 2015. A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson’s disease. Hum. Mol. Genet. 24, 6711–6720. https://doi.org/10.1093/hmg/ddv376

Löhle, M., Hughes, D., Milligan, A., Richfield, L., Reichmann, H., Mehta, A., Schapira, A.H.V., 2015. Clinical prodromes of neurodegeneration in Anderson-Fabry disease. Neurology 84, 1454–1464. https://doi.org/10.1212/WNL.0000000000001450

Lynch, D.S., Jaunmuktane, Z., Sheerin, U.-M., Phadke, R., Brandner, S., Milonas, I., Dean, A., Bajaj, N., McNicholas, N., Costello, D., Cronin, S., McGuigan, C., Rossor, M., Fox, N., Murphy, E., Chataway, J., Houlden, H., 2015. Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series. J. Neurol. Neurosurg. Psychiatr. https://doi.org/10.1136/jnnp-2015-310788

Magdalinou, N.K., Paterson, R.W., Schott, J.M., Fox, N.C., Mummery, C., Blennow, K., Bhatia, K., Morris, H.R., Giunti, P., Warner, T.T., de Silva, R., Lees, A.J., Zetterberg, H., 2015. A panel of nine cerebrospinal fluid biomarkers may identify patients with atypical parkinsonian syndromes. J. Neurol. Neurosurg. Psychiatr. https://doi.org/10.1136/jnnp-2014-309562

Manzoni, C., Denny, P., Lovering, R.C., Lewis, P.A., 2015. Computational analysis of the LRRK2 interactome. PeerJ 3, e778. https://doi.org/10.7717/peerj.778

Mencacci, N.E., R’bibo, L., Bandres-Ciga, S., Carecchio, M., Zorzi, G., Nardocci, N., Garavaglia, B., Batla, A., Bhatia, K.P., Pittman, A.M., Hardy, J., Weissbach, A., Klein, C., Gasser, T., Lohmann, E., Wood, N.W., 2015. The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort. Hum. Mol. Genet. 24, 5326–5329. https://doi.org/10.1093/hmg/ddv255

Mencacci, N.E., Rubio-Agusti, I., Zdebik, A., Asmus, F., Ludtmann, M.H.R., Ryten, M., Plagnol, V., Hauser, A.-K., Bandres-Ciga, S., Bettencourt, C., Forabosco, P., Hughes, D., Soutar, M.M.P., Peall, K., Morris, H.R., Trabzuni, D., Tekman, M., Stanescu, H.C., Kleta, R., Carecchio, M., Zorzi, G., Nardocci, N., Garavaglia, B., Lohmann, E., Weissbach, A., Klein, C., Hardy, J., Pittman, A.M., Foltynie, T., Abramov, A.Y., Gasser, T., Bhatia, K.P., Wood, N.W., 2015. A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia. Am. J. Hum. Genet. 96, 938–947. https://doi.org/10.1016/j.ajhg.2015.04.008

Noyce, A.J., Mencacci, N.E., Schrag, A., Bestwick, J.P., Giovannoni, G., Lees, A.J., Hardy, J., 2015. Web-based assessment of Parkinson’s prodromal markers identifies GBA variants. Mov. Disord. https://doi.org/10.1002/mds.26249

Schapira, A.H.V., 2015. Glucocerebrosidase and Parkinson disease: Recent advances. Mol. Cell. Neurosci. 66, 37–42. https://doi.org/10.1016/j.mcn.2015.03.013

Schottlaender, L.V., Polke, J.M., Ling, H., MacDoanld, N.D., Tucci, A., Nanji, T., Pittman, A., de Silva, R., Holton, J.L., Revesz, T., Sweeney, M.G., Singleton, A.B., Lees, A.J., Bhatia, K.P., Houlden, H., 2015. The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism. Neurobiology of Aging 36, 1221.e1–1221.e6. https://doi.org/10.1016/j.neurobiolaging.2014.08.024

Wallings, R., Manzoni, C., Bandopadhyay, R., 2015. Cellular processes associated with LRRK2 function and dysfunction. FEBS J. 282, 2806–2826. https://doi.org/10.1111/febs.13305

2014

Alessi, D.R., Zhang, J., Khanna, A., Hochdörfer, T., Shang, Y., Kahle, K.T., 2014. The WNK-SPAK/OSR1 pathway: Master regulator of cation-chloride cotransporters. Sci. Signal. 7, re3–re3. https://doi.org/10.1126/scisignal.2005365

Bago, R., Malik, N., Munson, M.J., Prescott, A.R., Davies, P., Sommer, E., Shpiro, N., Ward, R., Cross, D., Ganley, I.G., Alessi, D.R., 2014. Characterization of VPS34-IN1, a selective inhibitor of Vps34, reveals that the phosphatidylinositol 3-phosphate-binding SGK3 protein kinase is a downstream target of class III phosphoinositide 3-kinase. Biochemical Journal. 463, 413–427. https://doi.org/10.1042/BJ20140889

Banerjee, S., Buhrlage, S.J., Huang, H.-T., Deng, X., Zhou, W., Wang, J., Traynor, R., Prescott, A.R., Alessi, D.R., Gray, N.S., 2014. Characterization of WZ4003 and HTH-01-015 as selective inhibitors of the LKB1-tumour-suppressor-activated NUAK kinases. Biochemical Journal. 457, 215–225. https://doi.org/10.1042/BJ20131152

Banerjee, S., Zagórska, A., Deak, M., Campbell, D.G., Prescott, A.R., Alessi, D.R., 2014. Interplay between Polo kinase, LKB1-activated NUAK1 kinase, PP1ß(MYPT1) phosphatase complex and the SCF(ßTrCP) E3 ubiquitin ligase. Biochemical Journal. 461, 233–245. https://doi.org/10.1042/BJ20140408

Benitez, B., Jin, S., Guerreiro, R., Graham, R., Lord, J., Harold, D., Sims, R., Lambert, J., Gibbs, J., Bras, J., Sassi, C., Harari, O., Bertelsen, S., Lupton, M., Powell, J., Bellenguez, C., Brown, K., Medway, C., Haddick, P., van der Brug, M., Bhangale, T., Ortmann, W., Behrens, T., Mayeux, R., Pericak-Vance, M., Farrer, L., Schellenberg, G., Haines, J., Turton, J., Braae, A., Barber, I., Fagan, A., Holtzman, D., Morris, J., The 3C Study Group, the EADI consortium, the Alzheimer's Disease Genetic Consortium (ADGC), Alzheimer's Disease Neuroimaging Initiative (ADNI), the GERAD Consortium, Williams, J., Kauwe, J., Amouyel, P., Morgan, K., Singleton, A., Hardy, J., Goate, A., Cruchaga, C., 2014. Missense variant in TREML2 protects against Alzheimer’s disease. Neurobiol Aging 35. 1510, e19–26. https://doi.org/10.1016/j.neurobiolaging.2013.12.010

Berg, D., Postuma, R.B., Bloem, B., Chan, P., Dubois, B., Gasser, T., Goetz, C.G., Halliday, G.M., Hardy, J., Lang, A.E., Litvan, I., Marek, K., Obeso, J., Oertel, W., Olanow, C.W., Poewe, W., Stern, M., Deuschl, G., 2014. Time to redefine PD? Introductory statement of the MDS Task Force on the definition of Parkinson’s disease. Movement Disorders. 29, 454–462. https://doi.org/10.1002/mds.25844

Bettencourt, C., Ryten, M., Forabosco, P., Schorge, S., Hersheson, J., Hardy, J., Houlden, H., for the United Kingdom Brain Expression Consortium, 2014. Insights From Cerebellar Transcriptomic Analysis Into the Pathogenesis of Ataxia. JAMA Neurology. https://doi.org/10.1001/jamaneurol.2014.756

Birsa, N., Norkett, R., Wauer, T., Mevissen, T., Wu, H., Foltynie, T., Bhatia, K., Hirst, W., Komander, D., Plun-Favreau, H., Kittler, J., 2014. K27 ubiquitination of the mitochondrial transport protein Miro is dependent on serine 65 of the Parkin ubiquitin ligase. J Biol Chem. https://doi.org/10.1074/jbc.M114.563031 http://dx.doi.org/10.1074/jbc.M114.563031

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Vaarmann, A., Kovac, S., Holmström, K., Gandhi, S., Abramov, A., 2013. Dopamine protects neurons against glutamate-induced excitotoxicity. Cell Death Dis. 4, e455. https://doi.org/10.1038/cddis.2012.194

Waheed, A., Ludtmann, M., Pakes, N., Robery, S., Kuspa, A., Dinh, C., Baines, D., Williams, R., Carew, M., 2013. Naringenin inhibits the growth of Dictyostelium and MDCK-derived cysts in a polycystin-2 (TRPP2)-dependent manner. Br J Pharmacol. https://doi.org/10.1111/bph.12443

Wood-Kaczmar, A., Deas, E., Wood, N., Abramov, A., 2013. The Role of the Mitochondrial NCX in the Mechanism of Neurodegeneration in Parkinson’s Disease. Adv Exp Med Biol. 961, 241–249. https://doi.org/10.1007/978-1-4614-4756-6_20

Xiromerisiou, G., Dardiotis, E., Tsironi, E.E., Hadjigeorgiou, G., Ralli, S., Kara, E., Petalas, A., Tachmitzi, S., Hardy, J., Houlden, H., 2013. THAP1 mutations in a Greek primary blepharospasm series. Parkinsonism & Related Disorders. 19, 404–405. https://doi.org/10.1016/j.parkreldis.2012.08.015

Yao, C., Johnson, W., Gao, Y., Wang, W., Zhang, J., Deak, M., Alessi, D., Zhu, X., Mieyal, J., Roder, H., Wilson-Delfosse, A., Chen, S., 2013. Kinase inhibitors arrest neurodegeneration in cell and C. elegans models of LRRK2 toxicity. Hum Mol Genet. 22, 328–344. https://doi.org/10.1093/hmg/dds431

Zhang, L., Karsten, P., Hamm, S., Pogson, J., Müller-Rischart, A., Exner, N., Haass, C., Whitworth, A., Winklhofer, K., Schulz, J., Voigt, A., 2013. TRAP1 rescues PINK1 loss-of-function phenotypes. Hum Mol Genet. 22, 2829–2841. https://doi.org/10.1093/hmg/ddt132

2012

Batla, A., Stamelou, M., Bhatia, K., 2012. Treatment of focal dystonia. Curr Treat Options Neurol. 14, 213–229. https://doi.org/10.1007/s11940-012-0169-6

Bras, J., Guerreiro, R., Hardy, J., 2012a. Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease. Nat Rev Neurosci. 13, 453–464. https://doi.org/10.1038/nrn3271

Bras, J., Verloes, A., Schneider, S., Mole, S., Guerreiro, R., 2012b. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet. 21, 2646–2650. https://doi.org/10.1093/hmg/dds089

Charlesworth, G., Gandhi, S., Bras, J., Barker, R., Burn, D., Chinnery, P., Gentleman, S., Guerreiro, R., Hardy, J., Holton, J., Lees, A., Morrison, K., Sheerin, U., Williams, N., Morris, H., Revesz, T., Wood, N., 2012a. Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiol Aging. 33, 838.e7–11. https://doi.org/10.1016/j.neurobiolaging.2011.11.001

Charlesworth, G., Plagnol, V., Holmström, K., Bras, J., Sheerin, U., Preza, E., Rubio-Agusti, I., Ryten, M., Schneider, S., Stamelou, M., Trabzuni, D., Abramov, A., Bhatia, K., Wood, N., 2012b. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet. 91, 1041–1050. https://doi.org/10.1016/j.ajhg.2012.10.024

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Cremades, N., Cohen, S., Deas, E., Abramov, A., Chen, A., Orte, A., Sandal, M., Clarke, R., Dunne, P., Aprile, F., Bertoncini, C., Wood, N., Knowles, T., Dobson, C., Klenerman, D., 2012. Direct observation of the interconversion of normal and toxic forms of a-synuclein. Cell. 149, 1048–1059. https://doi.org/10.1016/j.cell.2012.03.037

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Duran, R., McNeill, A., Mehta, A., Hughes, D., Cox, T., Deegan, P., Schapira, A., Hardy, J., 2012a. Novel pathogenic mutations in the glucocerebrosidase locus. Mol Genet Meta. 106, 495–497. https://doi.org/10.1016/j.ymgme.2012.05.006

Duran, R., Mencacci, N., Angeli, A., Shoai, M., Deas, E., Houlden, H., Mehta, A., Hughes, D., Cox, T., Deegan, P., Schapira, A., Lees, A., Limousin, P., Jarman, P., Bhatia, K., Wood, N., Hardy, J., Foltynie, T., 2012b. The glucocerobrosidase E326K variant predisposes to Parkinson’s disease, but does not cause Gaucher’s disease. Mov Disord. https://doi.org/10.1002/mds.25248

Dzamko, N., Inesta-Vaquera, F., Zhang, J., Xie, C., Cai, H., Arthur, S., Tan, L., Choi, H., Gray, N., Cohen, P., Pedrioli, P., Clark, K., Alessi, D., 2012. The IkappaB kinase family phosphorylates the Parkinson’s disease kinase LRRK2 at Ser935 and Ser910 during Toll-like receptor signaling. PLoS One. 7, e39132. https://doi.org/10.1371/journal.pone.0039132

Edwards, M., Bhatia, K., 2012. Functional (psychogenic) movement disorders: merging mind and brain. Lancet Neurol. 11, 250–260. https://doi.org/10.1016/S1474-4422(11)70310-6

Edwards, M., Lang, A., Bhatia, K., 2012. Stereotypies: a critical appraisal and suggestion of a clinically useful definition. Mov Disord. 27, 179–185. https://doi.org/10.1002/mds.23994

Fasano, A., Valadas, A., Bhatia, K., Prashanth, L., Lang, A., Munhoz, R., Morgante, F., Tarsy, D., Duker, A., Girlanda, P., Bentivoglio, A., Espay, A., 2012. Psychogenic facial movement disorders: clinical features and associated conditions. Mov Disord. 27, 1544–1551. https://doi.org/10.1002/mds.25190

Fitzgerald, J., Camprubi, M., Dunn, L., Wu, H., Ip, N., Kruger, R., Martins, L., Wood, N., Plun-Favreau, H., 2012. Phosphorylation of HtrA2 by cyclin-dependent kinase-5 is important for mitochondrial function. Cell Death Differ. 19, 257–266. https://doi.org/10.1038/cdd.2011.90

Gandhi, S., Abramov, A., 2012. Mechanism of oxidative stress in neurodegeneration. Oxid Med Cell Longev. 2012, 428010. https://doi.org/10.1155/2012/428010

Gandhi, S., Vaarmann, A., Yao, Z., Duchen, M., Wood, N., Abramov, A., 2012. Dopamine induced neurodegeneration in a PINK1 model of Parkinson’s disease. PLoS One. 7, e37564. https://doi.org/10.1371/journal.pone.0037564

Gardiner, A., Bhatia, K., Stamelou, M., Dale, R., Kurian, M., Schneider, S., Wali, G., Counihan, T., Schapira, A., Spacey, S., Valente, E., Silveira-Moriyama, L., Teive, H., Raskin, S., Sander, J., Lees, A., Warner, T., Kullmann, D., Wood, N., Hanna, M., Houlden, H., 2012. PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology. 79, 2115–2121. https://doi.org/10.1212/WNL.0b013e3182752c5a

Gegg, M., Burke, D., Heales, S., Cooper, J., Hardy, J., Wood, N., Schapira, A., 2012. Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann Neurol. 72, 455–463. https://doi.org/10.1002/ana.23614

Guerreiro, R., Gustafson, D., Hardy, J., 2012a. The genetic architecture of Alzheimer’s disease: beyond APP, PSENs and APOE. Neurobiol Aging. 33, 437–456. https://doi.org/10.1016/j.neurobiolaging.2010.03.025

Guerreiro, R., Lohmann, E., Brás, J., Gibbs, J., Rohrer, J., Gurunlian, N., Dursun, B., Bilgic, B., Hanagasi, H., Gurvit, H., Emre, M., Singleton, A., Hardy, J., 2012b. Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia-like Syndrome Without Bone Involvement. JAMA Neurol. https://doi.org/10.1001/archneurol.2013.579

Guerreiro, R., Lohmann, E., Kinsella, E., Brás, J., Luu, N., Gurunlian, N., Dursun, B., Bilgic, B., Santana, I., Hanagasi, H., Gurvit, H., Gibbs, J., Oliveira, C., Emre, M., Singleton, A., 2012c. Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer’s disease. Neurobiol Aging. 33, 1008.e17–23. https://doi.org/10.1016/j.neurobiolaging.2011.10.009

Hardy, J., 2012. CSF biomarking for diagnosis and treatment assessment in neurodegeneration. J Neurochem. 123, 339–341. https://doi.org/10.1111/j.1471-4159.2012.07928.x

Holmans, P., Moskvina, V., Jones, L., Sharma, M., The International Parkinson's Disease Genomics Consortium (IPDGC), Buchel, F., Sadd, M., Bras, J., Bettella, F., Nicolaou, N., Simón-Sánchez, J., Mittag, F., Gibbs, J., Schulte, C., Durr, A., Guerreiro, R., Hernandez, D., Brice, A., Stefánsson, H., Majamaa, K., Gasser, T., Heutink, P., Wood, N., Martinez, M., Singleton, A., Nalls, M., Hardy, J., Morris, H., Williams, N., 2012. A pathway based analysis provides additional support for an immune-related genetic susceptibility to Parkinson’s disease. Hum Mol Genet. https://doi.org/10.1093/hmg/dds492

Jebelli, J., Dihanich, S., Civiero, L., Manzoni, C., Greggio, E., Lewis, P., 2012. GTP binding and intramolecular regulation by the ROC domain of Death Associated Protein Kinase 1. Sci Rep 2, 695. https://doi.org/10.1038/srep00695

Keller, M., Saad, M., Bras, J., Bettella, F., Nicolaou, N., Simón-Sánchez, J., Mittag, F., Büchel, F., Sharma, M., Gibbs, J., Schulte, C., Moskvina, V., Durr, A., Holmans, P., Kilarski, L., Guerreiro, R., Hernandez, D., Brice, A., Ylikotila, P., Stefánsson, H., Majamaa, K., Morris, H., Williams, N., Gasser, T., Heutink, P., Wood, N., Hardy, J., Martinez, M., Singleton, A., Nalls, M., for the International Parkinson's Disease Genomics Consortium (IPDGC) and The Wellcome Trust Case Control Consortium 2 (WTCCC2), 2012. Using genome-wide complex trait analysis to quantify “missing heritability” in Parkinson’s disease. Hum Mol Genet. 21, 4996–5009. https://doi.org/10.1093/hmg/dds335

Kojovic, M., Bologna, M., Kassavetis, P., Murase, N., Palomar, F., Berardelli, A., Rothwell, J., Edwards, M., Bhatia, K., 2012a. Functional reorganization of sensorimotor cortex in early Parkinson disease. Neurology. 78, 1441–1448. https://doi.org/10.1212/WNL.0b013e318253d5dd

Kojovic, M., Sheerin, U., Rubio-Agusti, I., Saha, A., Bras, J., Gibbons, V., Palmer, R., Houlden, H., Hardy, J., Wood, N., Bhatia, K., 2012b. Young-onset parkinsonism due to homozygous duplication of a-synuclein in a consanguineous family. Mov Disord. 27, 1829–1830. https://doi.org/10.1002/mds.25199

Kondapalli, C., Kazlauskaite, A., Zhang, N., Woodroof, H., Campbell, D., Gourlay, R., Burchell, L., Walden, H., Macartney, T., Deak, M., Knebel, A., Alessi, D., Muqit, M., 2012. PINK1 is activated by mitochondrial membrane potential depolarization and stimulates Parkin E3 ligase activity by phosphorylating Serine 65. Open Biol. 2, 120080. https://doi.org/10.1098/rsob.120080

Kovac, S., Domijan, A.-M., Walker, M.C., Abramov, A.Y., 2012. Prolonged seizure activity impairs mitochondrial bioenergetics and induces cell death. J. Cell. Sci. 125, 1796–1806. https://doi.org/10.1242/jcs.099176 https://doi.org/10.1242/jcs.099176

Lascaratos, G., Garway-Heath, D., Willoughby, C., Chau, K., Schapira, A., 2012. Mitochondrial dysfunction in glaucoma: understanding genetic influences. Mitochondrion. 12, 202–212. https://doi.org/10.1016/j.mito.2011.11.004

Lescai, F., Bonfiglio, S., Bacchelli, C., Chanudet, E., Waters, A., Sisodiya, S., Kasperaviciute, D., Williams, J., Harold, D., Hardy, J., Kleta, R., Cirak, S., Williams, R., Achermann, J., Anderson, J., Kelsell, D., Vulliamy, T., Houlden, H., Wood, N., Sheerin, U., Tonini, G., Mackay, D., Hussain, K., Sowden, J., Kinsler, V., Osinska, J., Brooks, T., Hubank, M., Beales, P., Stupka, E., 2012. Characterisation and validation of insertions and deletions in 173 patient exomes. PLoS One. 7, e51292. https://doi.org/10.1371/journal.pone.0051292

Lewis, P., 2012a. Assaying the kinase activity of LRRK2 in vitro. J Vis Exp. 59. https://doi.org/10.3791/3495

Lewis, P., Alessi, D., 2012. Deciphering the function of leucine-rich repeat kinase 2 and targeting its dysfunction in disease. Biochem Soc Trans. 40, 1039–1041. https://doi.org/10.1042/BST20120178

Lewis, P., Cookson, M., 2012. Gene expression in the Parkinson’s disease brain. Brain Res Bull. 88, 302–312. https://doi.org/10.1016/j.brainresbull.2011.11.016

Lewis, P., Manzoni, C., 2012. LRRK2 and human disease: a complicated question or a question of complexes? Sci Signal. 5, pe2. https://doi.org/10.1126/scisignal.2002680

Lewis, P.A., 2012b. James Parkinson: The Man Behind the Shaking Palsy. Journal of Parkinson’s Disease. 2, 181–187. https://doi.org/10.3233/JPD-2012-012108

Li, A., Paudel, R., Johnson, R., Courtney, R., Lees, A., Holton, J., Hardy, J., Revesz, T., Houlden, H., 2012. Pantothenate kinase-associated neurodegeneration is not a synucleinopathy. Neuropathol Appl Neurobiol. https://doi.org/10.1111/j.1365-2990.2012.01269.x

Majounie, E., Renton, A., Mok, K., Dopper, E., Waite, A., et al., 2012. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 11, 323–330. https://doi.org/10.1016/S1474-4422(12)70043-1

Manzoni, C., 2012. LRRK2 and autophagy: a common pathway for disease. Biochem Soc Trans. 40, 1147–1151. https://doi.org/10.1042/BST20120126

Matsuki, T., Zaka, M., Guerreiro, R., Van der Brug, M., Cooper, J., Cookson, M., Hardy, J., Howell, B., 2012. Identification of Stk25 as a genetic modifier of Tau phosphorylation in Dab1-mutant mice. PLoS One. 7, e31152. https://doi.org/10.1371/journal.pone.0031152

McNeill, A., Duran, R., Hughes, D., Mehta, A., Schapira, A., 2012a. A clinical and family history study of Parkinson’s disease in heterozygous glucocerebrosidase mutation carriers. J Neurol Neurosurg Psychiatry. 83, 853–854. https://doi.org/10.1136/jnnp-2012-302402

McNeill, A., Duran, R., Proukakis, C., Bras, J., Hughes, D., Mehta, A., Hardy, J., Wood, N., Schapira, A., 2012b. Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord. 27, 526–532. https://doi.org/10.1002/mds.24945

Mok, K., Traynor, B., Schymick, J., Tienari, P., Laaksovirta, H., Peuralinna, T., Myllykangas, L., Chiò, A., Shatunov, A., Boeve, B., Boxer, A., DeJesus-Hernandez, M., Mackenzie, I., Waite, A., Williams, N., Morris, H., Simón-Sánchez, J., Van Swieten, J., Heutink, P., Restagno, G., Mora, G., Morrison, K., Shaw, P., Rollinson, P., Al-Chalabi, A., Rademakers, R., Pickering-Brown, S., Orrell, R., Nalls, M., Hardy, J., 2012. Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging. 33, 209.e3–8. https://doi.org/10.1016/j.neurobiolaging.2011.08.005

Osellame, L., Blacker, T., Duchen, M., 2012. Cellular and molecular mechanisms of mitochondrial function. Best Pract Res Clin Endocrinol Metab. 26, 711–723. https://doi.org/10.1016/j.beem.2012.05.003

Paisán-Ruiz, C., Li, A., Schneider, S., Holton, J., Johnson, R., Kidd, D., Chataway, J., Bhatia, K., Lees, A., Hardy, J., Revesz, T., Houlden, H., 2012. Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. Neurobiol Aging. 33, 814–823. https://doi.org/10.1016/j.neurobiolaging.2010.05.009

Papkovskaia, T., Chau, K., Inesta-Vaquera, F., Papkovsky, D., Healy, D., Nishio, K., Staddon, J., Duchen, M., Hardy, J., Schapira, A., Cooper, J., 2012. G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization. Hum Mol Genet. 21, 4201–4213. https://doi.org/10.1093/hmg/dds244

Patani, R., Lewis, P., Trabzuni, D., Puddifoot, C., Wyllie, D., Walker, R., Smith, C., Hardingham, G., Weale, M., Hardy, J., Chandran, S., Ryten, M., 2012. Investigating the utility of human embryonic stem cell-derived neurons to model ageing and neurodegenerative disease using whole-genome gene expression and splicing analysis. J Neurochem. 122, 738–751. https://doi.org/10.1111/j.1471-4159.2012.07825.x

Pimenta de Castro, I., Costa, A., Lam, D., Tufi, R., Fedele, V., Moisoi, N., Dinsdale, D., Deas, E., Loh, S., Martins, L., 2012. Genetic analysis of mitochondrial protein misfolding in Drosophila melanogaster. Cell Death Differ. 19, 1308–1316. https://doi.org/10.1038/cdd.2012.5

Plun-Favreau, H., Burchell, V., Holmström, K., Yao, Z., Deas, E., Cain, K., Fedele, V., Moisoi, N., Campanella, M., Miguel Martins, L., Wood, N., Gourine, A., Abramov, A., 2012. HtrA2 deficiency causes mitochondrial uncoupling through the F1F0-ATP synthase and consequent ATP depletion. Cell Death Dis. 3, e335. https://doi.org/10.1038/cddis.2012.77

Reith, A., Bamborough, P., Jandu, K., Andreotti, D., Mensah, L., Dossang, P., Choi, H., Deng, X., Zhang, J., Alessi, D., Gray, N., 2012. GSK2578215A; a potent and highly selective 2-arylmethyloxy-5-substitutent-N-arylbenzamide LRRK2 kinase inhibitor. Bioorg Med Chem Lett. 22, 5625–5629. https://doi.org/10.1016/j.bmcl.2012.06.104

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Schapira, A., 2012. Mitochondrial diseases. Lancet. 379, 1825–1834. https://doi.org/10.1016/S0140-6736(11)61305-6

Schneider, S., Hardy, J., Bhatia, K., 2012. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Mov Disord. 27, 42–53. https://doi.org/10.1002/mds.23971

Sheerin, U., Charlesworth, G., Bras, J., Guerreiro, R., Bhatia, K., Foltynie, T., Limousin, P., Silveira-Moriyama, L., Lees, A., Wood, N., 2012a. Screening for VPS35 mutations in Parkinson’s disease. Neurobiol Aging. 33, 838.e1–5. https://doi.org/10.1016/j.neurobiolaging.2011.10.032

Sheerin, U., Stamelou, M., Charlesworth, G., Shiner, T., Spacey, S., Valente, E., Wood, N., Bhatia, K., 2012b. Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation. J Neurol. https://doi.org/10.1007/s00415-012-6747-4

Simón-Sánchez, J., Kilarski, L., Nalls, M., Martinez, M., Schulte, C., Holmans, P., International Parkinson's Disease Genomics Consortium, Wellcome Trust Case Control Consortium, Gasser, T., Hardy, J., Singleton, A., Wood, N., Brice, A., Heutink, P., Williams, N., Morris, H., 2012. Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson’s disease. PLoS One. 7, e28787. https://doi.org/10.1371/journal.pone.0028787

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Stamelou, M., Mencacci, N., Cordivari, C., Batla, A., Wood, N., Houlden, H., Hardy, J., Bhatia, K., 2012c. Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. Neurology. 79, 435–441. https://doi.org/10.1212/WNL.0b013e318261714a

Stamelou, M., Plazzi, G., Lugaresi, E., Edwards, M., Bhatia, K., 2012d. The distinct movement disorder in anti-NMDA receptor encephalitis may be related to Status Dissociatus: a hypothesis. Mov Disord. 27, 1360–1363. https://doi.org/10.1002/mds.25072

Stamelou, M., Saifee, T., Edwards, M., Bhatia, K., 2012e. Psychogenic palatal tremor may be underrecognized: reappraisal of a large series of cases. Mov Disord. 27, 1164–1168. https://doi.org/10.1002/mds.24948

Stamelou, M., Tuschl, K., Chong, W., Burroughs, A., Mills, P., Bhatia, K., Clayton, P., 2012f. Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. Mov Disord. 27, 1317–1322. https://doi.org/10.1002/mds.25138

Stockner, H., Schwingenschuh, P., Djamshidian, A., Silveira-Moriyama, L., Katschnig, P., Seppi, K., Dickson, J., Edwards, M., Lees, A., Poewe, W., Bhatia, K., 2012. Is transcranial sonography useful to distinguish scans without evidence of dopaminergic deficit patients from Parkinson’s disease? Mov Disord. 27, 1182–1185. https://doi.org/10.1002/mds.25102

Teo, J., Edwards, M., Bhatia, K., 2012. Tardive dyskinesia is caused by maladaptive synaptic plasticity: a hypothesis. Mov Disord. 27, 1205–1215. https://doi.org/10.1002/mds.25107

Tucci, A., Charlesworth, G., Sheerin, U., Plagnol, V., Wood, N., Hardy, J., 2012. Study of the genetic variability in a Parkinson’s Disease gene: EIF4G1. Neurosci Lett. 518, 19–22. https://doi.org/10.1016/j.neulet.2012.04.033

Wray, S., Self, M., NINDS Parkinson's Disease iPSC Consortium, NINDS Huntington's Disease iPSC Consortium, NINDS ALS iPSC Consortium, Lewis, P., Taanman, J., Ryan, N., Mahoney, C., Liang, Y., Devine, M., Sheerin, U., Houlden, H., Morris, H., Healy, D., Marti-Masso, J., Preza, E., Barker, S., Sutherland, M., Corriveau, R., D’Andrea, M., Schapira, A., Uitti, R., Guttman, M., Opala, G., Jasinska-Myga, B., Puschmann, A., Nilsson, C., Espay, A., Slawek, J., Gutmann, L., Boeve, B., Boylan, K., Stoessl, A., Ross, O., Maragakis, N., Van Gerpen, J., Gerstenhaber, M., Gwinn, K., Dawson, T., Isacson, O., Marder, K., Clark, L., Przedborski, S., Finkbeiner, S., Rothstein, J., Wszolek, Z., Rossor, M., Hardy, J., 2012. Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PLoS One. 7, e43099. https://doi.org/10.1371/journal.pone.0043099

Xiromerisiou, G., Houlden, H., Sailer, A., Silveira-Moriyama, L., Hardy, J., Lees, A., 2012a. Identical twins with Leucine rich repeat kinase type 2 mutations discordant for Parkinson’s disease. Mov Disord. 27, 1323. https://doi.org/10.1002/mds.24924

Xiromerisiou, G., Houlden, H., Scarmeas, N., Stamelou, M., Kara, E., Hardy, J., Lees, A., Korlipara, P., Limousin, P., Paudel, R., Hadjigeorgiou, G., Bhatia, K., 2012b. THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord. 27, 1290–1294. https://doi.org/10.1002/mds.25146

Zhang, J., Deng, X., Choi, H.G., Alessi, D.R., Gray, N.S., 2012. Characterization of TAE684 as a potent LRRK2 kinase inhibitor. Bioorganic & Medicinal Chemistry Letters. 22, 1864–1869. https://doi.org/10.1016/j.bmcl.2012.01.084

Zhang, T., Inesta-Vaquera, F., Niepel, M., Zhang, J., Ficarro, S., Machleidt, T., Xie, T., Marto, J., Kim, N., Sim, T., Laughlin, J., Park, H., LoGrasso, P., Patricelli, M., Nomanbhoy, T., Sorger, P., Alessi, D., Gray, N., 2012. Discovery of potent and selective covalent inhibitors of JNK. Chem Biol. 19, 140–154. https://doi.org/10.1016/j.chembiol.2011.11.010

2011

Abramov, A., Gegg, M., Grunewald, A., Wood, N., Klein, C., Schapira, A., 2011. Bioenergetic consequences of PINK1 mutations in Parkinson disease. PLoS One. 6, e25622. https://doi.org/10.1371/journal.pone.0025622

Alvarez-Erviti, L., Seow, Y., Schapira, A., Gardiner, C., Sargent, I., Wood, M., Cooper, J., 2011. Lysosomal dysfunction increases exosome-mediated alpha-synuclein release and transmission. Neurobiol Dis. 42, 360–367. https://doi.org/10.1016/j.nbd.2011.01.029

Bras, J., Singleton, A., 2011. Exome sequencing in Parkinson’s disease. Clin Genet. 80, 104–109. https://doi.org/10.1111/j.1399-0004.2011.01722.x

Carecchio, M., Schneider, S., Chan, H., Lachmann, R., Lee, P., Murphy, E., Bhatia, K., 2011. Movement disorders in adult surviving patients with maple syrup urine disease. Mov Disord. 26, 1324–1328. https://doi.org/10.1002/mds.23629

Compta, Y., Parkkinen, L., O’Sullivan, S., Vandrovcova, J., Holton, J., Collins, C., Lashley, T., Kallis, C., Williams, D., De Silva, R., Lees, A., Revesz, T., 2011. Lewy- and Alzheimer-type pathologies in Parkinson’s disease dementia: which is more important? Brain. 134, 1493–1505. https://doi.org/10.1093/brain/awr031

Deas, E., Plun-Favreau, H., Gandhi, S., Desmond, H., Kjaer, S., Loh, S., Renton, A., Harvey, R., Whitworth, A., Martins, L., Abramov, A., Wood, N., 2011a. PINK1 cleavage at position A103 by the mitochondrial protease PARL. Hum Mol Genet. 20, 867–879. https://doi.org/10.1093/hmg/ddq526

Deas, E., Wood, N., Plun-Favreau, H., 2011b. Mitophagy and Parkinson’s disease: the PINK1-parkin link. Biochim Biophys Acta. 1813, 623–633. https://doi.org/10.1016/j.bbamcr.2010.08.007

Devine, M., Gwinn, K., Singleton, A., Hardy, J., 2011a. Parkinson’s disease and a-synuclein expression. Mov Disord. 26, 2160–2168. https://doi.org/10.1002/mds.23948

Devine, M., Kaganovich, A., Ryten, M., Mamais, A., Trabzuni, D., Manzoni, C., McGoldrick, P., Chan, D., Dillman, A., Zerle, J., Horan, S., Taanman, J., Hardy, J., Marti-Masso, J., Healy, D., Healey, D., Schapira, A., Wolozin, B., Bandopadhyay, R., Cookson, M., Van der Brug, M., Lewis, P., 2011b. Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue. PLoS One. 6, e22489. https://doi.org/10.1371/journal.pone.0022489

Devine, M., Plun-Favreau, H., Wood, N., 2011c. Parkinson’s disease and cancer: two wars, one front. Nat Rev Cancer. 11, 812–823. https://doi.org/10.1038/nrc3150

Devine, M., Ryten, M., Vodicka, P., Thomson, A., Burdon, T., Houlden, H., Cavaleri, F., Nagano, M., Drummond, N., Taanman, J., Schapira, A., Gwinn, K., Hardy, J., Lewis, P., Kunath, T., 2011d. Parkinson’s disease induced pluripotent stem cells with triplication of the a-synuclein locus. Nat Commun. 2, 440. https://doi.org/10.1038/ncomms1453

Dihanich, S., Manzoni, C., 2011. LRRK2: a problem lurking in vesicle trafficking? J Neurosci. 31, 9787–9788. https://doi.org/10.1523/JNEUROSCI.1976-11.2011

Edwards, M., Alonso-Canovas, A., Schrag, A., Bloem, B., Thompson, P., Bhatia, K., 2011. Limb amputations in fixed dystonia: a form of body integrity identity disorder? Mov Disord. 26, 1410–1414. https://doi.org/10.1002/mds.23671

Gegg, M., Schapira, A., 2011. PINK1-parkin-dependent mitophagy involves ubiquitination of mitofusins 1 and 2: Implications for Parkinson disease pathogenesis. Autophagy. 7, 243–245. https://doi.org/10.4161/auto.7.2.14332

Guerreiro, R., Hardy, J., 2011. Alzheimer’s disease genetics: lessons to improve disease modelling. Biochem Soc Trans. 39, 910–916. https://doi.org/10.1042/BST0390910

International Parkinson Disease Genomics Consortium, Nalls, M., Plagnol, V., Hernandez, D., Sharma, M., Sheerin, U., Saad, M., Simón-Sánchez, J., Schulte, C., Lesage, S., Sveinbjörnsdóttir, S., Stefánsson, K., Martinez, M., Hardy, J., Heutink, P., Brice, A., Gasser, T., Singleton, A., Wood, N., 2011. Imputation of sequence variants for identification of genetic risks for Parkinson’s disease: a meta-analysis of genome-wide association studies. Lancet. 377, 641–649. https://doi.org/10.1016/S0140-6736(10)62345-8

International Parkinson’s Disease Genomics Consortium (IPDGC), Wellcome Trust Case Control Consortium 2 (WTCCC2), 2011. A two-stage meta-analysis identifies several new loci for Parkinson’s disease. PLoS Genet. 7, e1002142. https://doi.org/10.1371/journal.pgen.1002142

Kojovic, M., Caronni, A., Bologna, M., Rothwell, J., Bhatia, K., Edwards, M., 2011. Botulinum toxin injections reduce associative plasticity in patients with primary dystonia. Mov Disord. 26, 1282–1289. https://doi.org/10.1002/mds.23681

Meissner, W., Frasier, M., Gasser, T., Goetz, C., Lozano, A., Piccini, P., Obeso, J., Rascol, O., Schapira, A., Voon, V., Weiner, D., Tison, F., Bezard, E., 2011. Priorities in Parkinson’s disease research. Nat Rev Drug Discov. 10, 377–393. https://doi.org/10.1038/nrd3430

Palmer, C., Osellame, L., Stojanovski, D., Ryan, M., 2011. The regulation of mitochondrial morphology: intricate mechanisms and dynamic machinery. Cell Signal. 23, 1534–1545. https://doi.org/10.1016/j.cellsig.2011.05.021

Parkkinen, L., O’Sullivan, S.S., Collins, C., Petrie, A., Holton, J.L., Revesz, T., Lees, A.J., 2011. Disentangling the Relationship between Lewy Bodies and Nigral Neuronal Loss in Parkinson’s Disease. Journal of Parkinson’s Disease. 1, 277–286. https://doi.org/10.3233/JPD-2011-11046

Pogson, J., Ivatt, R., Whitworth, A., 2011. Molecular mechanisms of PINK1-related neurodegeneration. Curr Neurol Neurosci. Rep 11, 283–290. https://doi.org/10.1007/s11910-011-0187-x

Renton, A., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., et al., 2011. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 72, 257–268. https://doi.org/10.1016/j.neuron.2011.09.010

Schapira, A., 2011. Challenges to the development of disease-modifying therapies in Parkinson’s disease. Eur J Neurol. 18, Suppl 1, 16–21. https://doi.org/10.1111/j.1468-1331.2010.03324.x

Schapira, A., Gegg, M., 2011. Mitochondrial contribution to Parkinson’s disease pathogenesis. Parkinsons Dis. 2011, 159160. https://doi.org/10.4061/2011/159160

Schapira, A., Jenner, P., 2011. Etiology and pathogenesis of Parkinson’s disease. Mov Disord. 26, 1049–1055. https://doi.org/10.1002/mds.23732

Schapira, A., Schrag, A., 2011. Parkinson disease: Parkinson disease clinical subtypes and their implications. Nat Rev Neurol. 7, 247–248. https://doi.org/10.1038/nrneurol.2011.40

Schwingenschuh, P., Katschnig, P., Edwards, M., Teo, J., Korlipara, L., Rothwell, J., Bhatia, K., 2011a. The blink reflex recovery cycle differs between essential and presumed psychogenic blepharospasm. Neurology. 76, 610–614. https://doi.org/10.1212/WNL.0b013e31820c3074

Schwingenschuh, P., Katschnig, P., Seiler, S., Saifee, T., Aguirregomozcorta, M., Cordivari, C., Schmidt, R., Rothwell, J., Bhatia, K., Edwards, M., 2011b. Moving toward “laboratory-supported” criteria for psychogenic tremor. Mov Disord. 26, 2509–2515. https://doi.org/10.1002/mds.23922

Singleton, A., Hardy, J., 2011. A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci. Hum Mol Genet. 20, R158–62. https://doi.org/10.1093/hmg/ddr358

Stamelou, M., Kojovic, M., Edwards, M., Bhatia, K., 2011. Ability to cycle despite severe freezing of gait in atypical parkinsonism in Fahr’s syndrome. Mov Disord. 26, 2141–2142. https://doi.org/10.1002/mds.23794

Trabzuni, D., Ryten, M., Walker, R., Smith, C., Imran, S., Ramasamy, A., Weale, M., Hardy, J., 2011. Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies. J Neurochem. 119, 275–282. https://doi.org/10.1111/j.1471-4159.2011.07432.x

UK Parkinson’s Disease Consortium, Wellcome Trust Case Control Consortium 2, Spencer, C., Plagnol, V., Strange, A., et al., 2011. Dissection of the genetics of Parkinson’s disease identifies an additional association 5’ of SNCA and multiple associated haplotypes at 17q21. Hum Mol Genet. 20, 345–353. https://doi.org/10.1093/hmg/ddq469

Whitworth, A., 2011. Drosophila models of Parkinson’s disease. Adv Genet. 73, 1–50. https://doi.org/10.1016/B978-0-12-380860-8.00001-X

Woodroof, H., Pogson, J., Begley, M., Cantley, L., Deak, M., Campbell, D., Van Aalten, D., Whitworth, A., Alessi, D., Muqit, M., 2011. Discovery of catalytically active orthologues of the Parkinson’s disease kinase PINK1: analysis of substrate specificity and impact of mutations. Open Biol. 1, 110012. https://doi.org/10.1098/rsob.110012

Yao, Z., Gandhi, S., Burchell, V., Plun-Favreau, H., Wood, N., Abramov, A., 2011. Cell metabolism affects selective vulnerability in PINK1-associated Parkinson’s disease. J Cell Sci. 124, 4194–4202. https://doi.org/10.1242/jcs.088260

2010

Alvarez-Erviti, L., Rodriguez-Oroz, M., Cooper, J., Caballero, C., Ferrer, I., Obeso, J., Schapira, A., 2010. Chaperone-mediated autophagy markers in Parkinson disease brains. Arch Neurol. 67, 1464–1472. https://doi.org/10.1001/archneurol.2010.198

Burchell, V., Gandhi, S., Deas, E., Wood, N., Abramov, A., Plun-Favreau, H., 2010a. Targeting mitochondrial dysfunction in neurodegenerative disease: Part I. Expert Opin Ther Targets. 14, 369–385. https://doi.org/10.1517/14728221003652489

Burchell, V., Gandhi, S., Deas, E., Wood, N., Abramov, A., Plun-Favreau, H., 2010b. Targeting mitochondrial dysfunction in neurodegenerative disease: Part II. Expert Opin Ther Targets. 14, 497–511. https://doi.org/10.1517/14728221003730434

Chau, K., Cooper, J., Schapira, A., 2010. Rasagiline protects against alpha-synuclein induced sensitivity to oxidative stress in dopaminergic cells. Neurochem Int. 57, 525–529. https://doi.org/10.1016/j.neuint.2010.06.017

Duchen, M., Szabadkai, G., 2010. Roles of mitochondria in human disease. Essays Biochem. 47, 115–137. https://doi.org/10.1042/BSE0470115

Dzamko, N., Deak, M., Hentati, F., Reith, A., Prescott, A., Alessi, D., Nichols, R., 2010. Inhibition of LRRK2 kinase activity leads to dephosphorylation of Ser(910)/Ser(935), disruption of 14-3-3 binding and altered cytoplasmic localization. Biochem J. 430, 405–413. https://doi.org/10.1042/BJ20100784

Gandhi, S., Wood, N., 2010. Genome-wide association studies: the key to unlocking neurodegeneration? Nat Neurosci. 13, 789–794. https://doi.org/10.1038/nn.2584

Gegg, M., Cooper, J., Chau, K., Rojo, M., Schapira, A., Taanman, J., 2010. Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy. Hum Mol Genet. 19, 4861–4870. https://doi.org/10.1093/hmg/ddq419

Hardy, J., 2010. Genetic analysis of pathways to Parkinson disease. Neuron. 68, 201–206. https://doi.org/10.1016/j.neuron.2010.10.014

Kieper, N., Holmström, K., Ciceri, D., Fiesel, F., Wolburg, H., Ziviani, E., Whitworth, A., Martins, L., Kahle, P., Krüger, R., 2010. Modulation of mitochondrial function and morphology by interaction of Omi/HtrA2 with the mitochondrial fusion factor OPA1. Exp Cell Res. 316, 1213–1224. https://doi.org/10.1016/j.yexcr.2010.01.005

Plun-Favreau, H., Lewis, P., Hardy, J., Martins, L., Wood, N., 2010. Cancer and neurodegeneration: between the devil and the deep blue sea. PLoS Genet. 6, e1001257. https://doi.org/10.1371/journal.pgen.1001257

Schapira, A., 2010. Complex I: inhibitors, inhibition and neurodegeneration. Exp Neurol. 224, 331–335. https://doi.org/10.1016/j.expneurol.2010.03.028

Schapira, A., Tolosa, E., 2010. Molecular and clinical prodrome of Parkinson disease: implications for treatment. Nat Rev Neurol. 6, 309–317. https://doi.org/10.1038/nrneurol.2010.52

Tucci, A., Nalls, M., Houlden, H., Revesz, T., Singleton, A., Wood, N., Hardy, J., Paisán-Ruiz, C., 2010. Genetic variability at the PARK16 locus. Eur J Hum Genet. 18, 1356–1359. https://doi.org/10.1038/ejhg.2010.125

Wray, S., Lewis, P., 2010. A tangled web - tau and sporadic Parkinson’s disease. Front Psychiatry. 1, 150. https://doi.org/10.3389/fpsyt.2010.00150

Ziviani, E., Whitworth, A., 2010. How could Parkin-mediated ubiquitination of mitofusin promote mitophagy? Autophagy. 6, 660–662. https://doi.org/10.4161/auto.6.5.12242