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chromosome 22q deletion

Parkinson's chromosome deletion linked to other genetic disorders

Researchers, led by BRC-supported Professor Nicholas Wood, UCL Institute of Neurology, have made a breakthrough in their understanding of Parkinson’s disease after they discovered a chromosome deletion linked to Parkinson’s disease and other genetic disorders. More...

Prof John Hardy

Prof John Hardy is the first UK winner of $3m Breakthrough Prize in Life Sciences

Professor John Hardy (UCL Institute of Neurology) has been awarded the $3 million Breakthrough Prize in Life Sciences for his pioneering research into the genetic causes of Alzheimer’s disease, other forms of dementia and Parkinson’s disease. More...

John Hardy, PhD, right, accepted the 2015 Robert A. Pritzker Prize from MJFF VP Brian Fiske, PhD, and Michael J. Fox on April 15.

John Hardy awarded 2015 Robert A. Pritzker Prize for Leadership in Parkinson's Research

One of the UK Parkinson's Disease Consortium Principal Investigators, Prof John Hardy, has been awarded the 2015 Robert A. Pritzker Prize for his leadership in Parkinson's genetics research. The award was presented by Michael J. Fox at a ceremony in New York on April 15. From the Michael J. Fox Foundation website: More...

Webcast - Prof Nicholas Wood - Advances in Genetic Understanding of Parkinson's Disease.

Video: Advances in Genetic Understanding of Parkinson's Disease

Webcast of the presentation entitled ‘Advances in Genetic Understanding of Parkinson's Disease’ given by Nicholas Wood (University College London, United Kingdom) presented at the Biochemical Society Hot Topic event, PINK1-Parkin Signalling in Parkinson’s Disease and Beyond, held in December 2014. More...

Pedigrees and I-FP-CIT SPECT scan images of the four families with GCH1 mutations involved in this study.

GCH1 gene and Parkinson's risk

A study published in Brain, led by researchers at UCL Institute of Neurology, has shown that genetic mutations which cause a decrease in dopamine production in the brain and lead to a form of childhood-onset Dystonia, also play a role in the development of Parkinson’s disease.


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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. doi: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. doi: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. doi: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. doi: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. doi: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. doi: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. doi: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. doi: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. doi: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. doi: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. doi: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. doi:10.1002/mds.26249

Schapira, A.H.V., 2015. Glucocerebrosidase and Parkinson disease: Recent advances. Mol. Cell. Neurosci. 66, 37–42. doi: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. doi:10.1016/j.neurobiolaging.2014.08.024

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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. doi: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. doi: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. doi: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. doi: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.

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. doi: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.

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.

Bras, J., Guerreiro, R., Darwent, L., Parkkinen, L., Ansorge, O., Escott-Price, V., Hernandez, D.G., Nalls, M.A., Clark, L., Honig, L., Marder, K., van der Flier, W., 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., Halliday, G.M., Mann, D., Pickering-Brown, S., Dickson, D., Singleton, A., Hardy, J., 2014. Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of Dementia with Lewy Bodies. Human Molecular Genetics. doi:10.1093/hmg/ddu334

Charlesworth, G., Bhatia, K., Wood, N., 2014. No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia. Mov Disord 29, 154–155.

Civiero, L., Dihanich, S., Lewis, P.A., Greggio, E., 2014. Genetic, Structural, and Molecular Insights into the Function of Ras of Complex Proteins Domains. Chemistry & Biology. doi:10.1016/j.chembiol.2014.05.010

Compta, Y., Parkkinen, L., Kempster, P., Selikhova, M., Lashley, T., Holton, J., Lees, A., Revesz, T., 2014. The significance of a-synuclein, amyloid-ß and tau pathologies in Parkinson’s disease progression and related dementia. Neurodegener Dis 13, 154–156.

Cooper, J.M., Wiklander, P.B.O., Nordin, J.Z., Al-Shawi, R., Wood, M.J., Vithlani, M., Schapira, A.H.V., Simons, J.P., El-Andaloussi, S., Alvarez-Erviti, L., 2014. Systemic exosomal siRNA delivery reduced alpha-synuclein aggregates in brains of transgenic mice. Movement Disorders. doi:10.1002/mds.25978

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Karran, E., Hardy, J., 2014. A critique of the drug discovery and phase 3 clinical programs targeting the amyloid hypothesis for Alzheimer disease. Annals of Neurology. doi:10.1002/ana.24188

Kazlauskaite, A., Kelly, V., Johnson, C., Baillie, C., Hastie, C.J., Peggie, M., Macartney, T., Woodroof, H.I., Alessi, D.R., Pedrioli, P.G.A., Muqit, M.M.K., 2014. Phosphorylation of Parkin at Serine65 is essential for activation: elaboration of a Miro1 substrate-based assay of Parkin E3 ligase activity. Open Biology 4, 130213. doi:10.1098/rsob.130213

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