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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.

Patrick A Lewis

(Principal Investigator and Parkinson`s UK Research Fellow)

Patrick Lewis

I studied biochemistry at the University of Manchester, undertaking a year of research at the Mayo Clinic in Florida as part of this during which I investigated cellular dysfunction linked to mutations in the amyloid precursor protein and presenilin 1 associated with familial Alzheimer's disease. I then moved to the MRC Prion Unit at UCL, where I carried out graduate studies into the molecular mechanisms of scrapie gaining my PhD in 2005. From 2005 to 2007 I was visiting fellow in the Laboratory of Neurogenetics at the National Institute of Aging in Bethesda, mentored by Mark Cookson. It was here that I first started working on LRRK2, a protein which has been the object of my affections ever since. I returned to UCL in 2007 as a Brain Research Trust senior research fellow in the Department of Molecular Neuroscience and have continued my research into the basis of Parkinson's disease linked to mutations in LRRK2. I am currently a Parkinson's UK research fellow.

Laboratory webpage


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Number of items: 75.


Ferrari, R; Kia, DA; Tomkins, JE; Hardy, J; Wood, NW; Lovering, RC; Lewis, PA; (2018) Stratification of candidate genes for Parkinson's disease using weighted protein-protein interaction network analysis. BMC Genomics , 19 , Article 452. 10.1186/s12864-018-4804-9. Green open access

Härtlova, A; Herbst, S; Peltier, J; Rodgers, A; Bilkei-Gorzo, O; Fearns, A; Dill, BD; ... Gutierrez, MG; + view all (2018) LRRK2 is a negative regulator of Mycobacterium tuberculosis phagosome maturation in macrophages. The EMBO Journal , 2018 , Article e98694. 10.15252/embj.201798694. (In press). Green open access

Lewis, PA; (2018) Mutations in LRRK2 amplify cell-to-cell protein aggregate propagation: a hypothesis. [Letter]. Acta Neuropathologica , 135 (6) pp. 973-976. 10.1007/s00401-018-1838-7. Green open access

Mamais, A; Manzoni, C; Nazish, I; Arber, C; Sonustun, B; Wray, S; Warner, T; ... Bandopadhyay, R; + view all (2018) Analysis of macroautophagy related proteins in G2019S LRRK2 Parkinson's disease brains with Lewy Body pathology. Brain Research , 1701 pp. 75-84. 10.1016/j.brainres.2018.07.023.

Manzoni, C; Kia, DA; Vandrovcova, J; Hardy, J; Wood, NW; Lewis, PA; Ferrari, R; (2018) Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences. Briefings in Bioinformatics , 19 (2) pp. 286-302. 10.1093/bib/bbw114. Green open access

Manzoni, C; Mamais, A; Dihanich, S; Soutar, MPM; Plun-Favreau, H; Bandopadhyay, R; Abeti, R; ... Lewis, PA; + view all (2018) mTOR independent alteration in ULK1 Ser758 phosphorylation following chronic LRRK2 kinase inhibition. Bioscience Reports , 38 (2) , Article BSR20171669. 10.1042/BSR20171669. Green open access

Price, A; Manzoni, C; Cookson, MR; Lewis, PA; (2018) The LRRK2 signalling system. Cell and Tissue Research 10.1007/s00441-017-2759-9. Green open access

Tomkins, JE; Dihanich, S; Beilina, A; Ferrari, R; Ilacqua, N; Cookson, MR; Lewis, PA; (2018) Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Proteomics 10.1002/pmic.201700444. (In press). Green open access

Vlachakis, D; Labrou, NE; Iliopoulos, C; Hardy, J; Lewis, PA; Rideout, H; Trabzuni, D; (2018) Insights into the Influence of Specific Splicing Events on the Structural Organization of LRRK2. International Journal of Molecular Sciences , 19 (9) , Article 2784. 10.3390/ijms19092784. Green open access


Civiero, L; Cogo, S; Kiekens, A; Morganti, C; Tessari, I; Lobbestael, E; Baekelandt, V; ... Greggio, E; + view all (2017) PAK6 Phosphorylates 14-3-3 gamma to Regulate Steady State Phosphorylation of LRRK2. Frontiers in Molecular Neuroscience , 10 , Article 417. 10.3389/fnmol.2017.00417. Green open access

Ferrari, R; Lovering, RC; Hardy, J; Lewis, PA; Manzoni, C; (2017) Weighted Protein Interaction Network Analysis of Frontotemporal Dementia. Journal of Proteome Research , 16 (2) pp. 999-1013. 10.1021/acs.jproteome.6b00934. Green open access

Manzoni, C; Ferrari, R; Hardy, J; Lovering, RC; Bandopadhyay, R; Lewis, PA; (2017) Protein network analysis of FTD and PD: pathways and candidate genes for sporadic disease. Presented at: 118th Meeting of the British-Neuropathological-Society, Royal Coll Phys, London, ENGLAND.

Murthy, MN; Blauwendraat, C; UKBEC, ; Guelfi, S; IPDGC, ; Hardy, J; Lewis, PA; (2017) Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson's disease on chromosome 7p15.3. Neurogenetics 10.1007/s10048-017-0514-8. Green open access

Noyce, AJ; Kia, DA; Hemani, G; Nicolas, A; Price, TR; De Pablo-Fernandez, E; Haycock, PC; ... Wood, NW; + view all (2017) Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation study. PLoS Medicine , 14 (6) , Article e1002314. 10.1371/journal.pmed.1002314. Green open access


Kara, E; Tucci, A; Manzoni, C; Lynch, DS; Elpidorou, M; Bettencourt, C; Chelban, V; ... Houlden, H; + view all (2016) Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain , 139 (7) pp. 1904-1918. 10.1093/brain/aww111. Green open access

Lubbe, SJ; Escott-Price, V; Gibbs, JR; Nalls, MA; Bras, J; Price, TR; Nicolas, A; ... for International Parkinson’s Disease Genomics Consortium, .; + view all (2016) Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance. Human Molecular Genetics , 25 (24) pp. 5483-5489. 10.1093/hmg/ddw348. Green open access

Manzoni, C; Mamais, A; Roosen, DA; Dihanich, S; Soutar, MPM; Plun-Favreau, H; Bandopadhyay, R; ... Lewis, PA; + view all (2016) mTOR independent regulation of macroautophagy by Leucine Rich Repeat Kinase 2 via Beclin-1. Scientific Reports , 6 , Article 35106. 10.1038/srep35106. Green open access


Kiely, AP; Ling, H; Asi, YT; Kara, E; Proukakis, C; Schapira, AH; Morris, HR; ... Holton, JL; + view all (2015) Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation. Molecular Neurodegeneration , 10 , Article 41. 10.1186/s13024-015-0038-3. Green open access

Manzoni, C; Denny, P; Lovering, RC; Lewis, PA; (2015) Computational analysis of the LRRK2 interactome. PeerJ , 3 , Article e778. 10.7717/peerj.778. Green open access


Dihanich, S; Civiero, L; Manzoni, C; Mamais, A; Bandopadhyay, R; Greggio, E; Lewis, PA; (2014) GTP binding controls complex formation by the human ROCO protein MASL1. FEBS J , 281 (1) pp. 261-274. 10.1111/febs.12593. Green open access

Mamais, A; Chia, R; Beilina, A; Hauser, DN; Hall, C; Lewis, PA; Cookson, MR; (2014) Arsenite Stress Downregulates Phosphorylation and 14-3-3 Binding of Leucine-rich Repeat Kinase 2 (LRRK2) Promoting Self-Association and Cellular Redistribution. J Biol Chem , 289 (31) pp. 21386-21400. 10.1074/jbc.M113.528463. Green open access

Tsika, E; Glauser, L; Moser, R; Fiser, A; Daniel, G; Sheerin, UM; Lees, A; ... Moore, DJ; + view all (2014) Parkinson's Disease-Linked Mutations in VPS35 Induce Dopaminergic Neurodegeneration. Hum Mol Genet , 23 (17) pp. 4621-4638. 10.1093/hmg/ddu178. Green open access


(2013) α-Synuclein mutations cluster around a putative protein loop. Neuroscience Letters , 546 pp. 67-70. 10.1016/j.neulet.2013.04.058.

Burchell, VS; Nelson, DE; Sanchez-Martinez, A; Delgado-Camprubi, M; Ivatt, RM; Pogson, JH; Randle, SJ; ... Plun-Favreau, H; + view all (2013) The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. Nature Neuroscience , 16 (9) pp. 1257-1265. 10.1038/nn.3489. Green open access

Kara, E; Lewis, PA; Ling, H; Proukakis, C; Houlden, H; Hardy, J; (2013) α-Synuclein mutations cluster around a putative protein loop. Neurosci Lett , 546 67 - 70. 10.1016/j.neulet.2013.04.058. Green open access

Kiely, AP; Asi, YT; Kara, E; Limousin, P; Ling, H; Lewis, P; Proukakis, C; ... Holton, JL; + view all (2013) α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy? Acta Neuropathologica , 125 (5) 753 - 769. 10.1007/s00401-013-1096-7. Green open access

Kiely, AP; Asi, YT; Ling, H; Lees, AJ; Hardy, J; Revesz, T; Holton, JL; ... Quinn, N; + view all (2013) A-synucleinopathy associated with G51D SNCA mutation: A link between Parkinson's disease and multiple system atrophy? Acta Neuropathologica , 125 (5) 753 - 769. 10.1007/s00401-013-1096-7. Green open access

Mamais, A; Raja, M; Manzoni, C; Dihanich, S; Lees, A; Moore, D; Lewis, PA; (2013) Divergent α-synuclein solubility and aggregation properties in G2019S LRRK2 Parkinson's disease brains with Lewy Body pathology compared to idiopathic cases. Neurobiol Dis , 58 pp. 183-190. 10.1016/j.nbd.2013.05.017. Green open access

Manzoni, C; Lewis, PA; (2013) Dysfunction of the autophagy/lysosomal degradation pathway is a shared feature of the genetic synucleinopathies. The FASEB Journal , 27 (9) 3424 - 3429. 10.1096/fj.12-223842. Green open access

Manzoni, C; Mamais, A; Dihanich, S; Abeti, R; Soutar, MP; Plun-Favreau, H; Giunti, P; ... Lewis, PA; + view all (2013) Inhibition of LRRK2 kinase activity stimulates macroautophagy. Biochim Biophys Acta , 1833 (12) pp. 2900-2910. 10.1016/j.bbamcr.2013.07.020. Green open access

Manzoni, C; Mamais, A; Dihanich, S; McGoldrick, P; Devine, MJ; Zerle, J; Kara, E; ... Lewis, PA; + view all (2013) Pathogenic Parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation. Biochemical and Biophysical Research Communications , 441 (4) pp. 862-866. 10.1016/j.bbrc.2013.10.159. Green open access

Manzoni, C; Mamais, A; Dihanich, S; Tooze, S; Bandopadhyay, R; Lewis, PA; (2013) LRRK2 regulates autophagy. In: (Proceedings) 114th Meeting of the British-Neuropathological-Society / Symposium on Advances in Motor Neuron Diseases. (pp. p. 10). WILEY-BLACKWELL

Paisan-Ruiz, C; Lewis, PA; Singleton, AB; (2013) LRRK2: Cause, Risk, and Mechanism. JOURNAL OF PARKINSONS DISEASE , 3 (2) pp. 85-103. 10.3233/JPD-130192.

Trabzuni, D; Ryten, M; Emmett, W; Ramasamy, A; Lackner, KJ; Zeller, T; Walker, R; ... Plagnol, V; + view all (2013) Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 Locus. PLOS ONE , 8 (8) , Article e70724. 10.1371/journal.pone.0070724. Green open access


Devine, MJ; Kaganovich, A; Ryten, M; Mamais, A; Trabzuni, D; Manzoni, C; McGoldrick, P; ... Lewis, PA; + view all (2012) Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue. PLOS ONE , 7 (1) , Article e22489. 10.1371/annotation/c12e4f9e-5aae-424b-a69f-fddf16976dc5. Green open access

Jebelli, JD; Dihanich, S; Civiero, L; Manzoni, C; Greggio, E; Lewis, PA; (2012) GTP binding and intramolecular regulation by the ROC domain of Death Associated Protein Kinase 1. SCIENTIFIC REPORTS , 2 (ARTN 695) 10.1038/srep00695. Gold open access

Lewis, PA; (2012) Assaying the Kinase Activity of LRRK2 in vitro. JOVE-JOURNAL OF VISUALIZED EXPERIMENTS (59) 10.3791/3495. Gold open access

Lewis, PA; (2012) James Parkinson: The Man Behind the Shaking Palsy. JOURNAL OF PARKINSONS DISEASE , 2 (3) pp. 181-187. 10.3233/JPD-2012-012108.

Lewis, PA; Alessi, DR; (2012) Deciphering the function of leucine-rich repeat kinase 2 and targeting its dysfunction in disease. BIOCHEMICAL SOCIETY TRANSACTIONS , 40 pp. 1039-1041. 10.1042/BST20120178.

Lewis, PA; Cookson, MR; (2012) Gene expression in the Parkinson's disease brain. BRAIN RESEARCH BULLETIN , 88 (4) pp. 302-312. 10.1016/j.brainresbull.2011.11.016.

Lewis, PA; Manzoni, C; (2012) LRRK2 and Human Disease: A Complicated Question or a Question of Complexes? SCIENCE SIGNALING , 5 (207) 10.1126/scisignal.2002680.

Manzoni, C; Dihanich, S; Mamais, A; Cai, H; Bandopadhyay, R; Lewis, PA; (2012) LRRK2 and autophagy: Molecular targets for Parkinson's disease? In: (Proceedings) 16th International Congress of Parkinson's Disease and Movement Disorders. (pp. S489-S489). WILEY-BLACKWELL

Patani, R; Lewis, PA; Trabzuni, D; Puddifoot, CA; Wyllie, DJA; Walker, R; Smith, C; ... Ryten, M; + view all (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. JOURNAL OF NEUROCHEMISTRY , 122 (4) pp. 738-751. 10.1111/j.1471-4159.2012.07825.x.

Wray, S; Self, M; NINDS Parkinson's Disease iPSC Consortium, ; NINDS Huntington's Disease iPSC Consortium, ; NINDS ALS iPSC Consortium, ; Lewis, PA; Taanman, JW; ... Hardy, J; + view all (2012) Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PLOS One , 7 (8) , Article e43099. 10.1371/journal.pone.0043099. Green open access


Devine, MJ; Kaganovich, A; Ryten, M; Mamais, A; Trabzuni, D; Manzoni, C; McGoldrick, P; ... Lewis, PA; + view all (2011) Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue. PLOS ONE , 6 (7) , Article e22489. 10.1371/journal.pone.0022489. Green open access

Devine, MJ; Ryten, M; Vodicka, P; Thomson, AJ; Burdon, T; Houlden, H; Cavaleri, F; ... Kunath, T; + view all (2011) Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus. NAT COMMUN , 2 , Article 440. 10.1038/ncomms1453. Gold open access


Plun-Favreau, H; Lewis, PA; Hardy, J; Martins, LM; Wood, NW; (2010) Cancer and neurodegeneration: between the devil and the deep blue sea. PLoS Genetics , 6 (12) , Article e1001257. 10.1371/journal.pgen.1001257. Green open access

Wray, S; Lewis, PA; (2010) A tangled web - tau and sporadic Parkinson's disease. Front Psychiatry , 1 150-. 10.3389/fpsyt.2010.00150.


Hardy, J; Lewis, P; Revesz, T; Lees, A; Paisan-Ruiz, C; (2009) The genetics of Parkinson's syndromes: a critical review. CURR OPIN GENET DEV , 19 (3) 254 - 265. 10.1016/j.gde.2009.03.008.

Lewis, PA; (2009) The function of ROCO proteins in health and disease. BIOL CELL , 101 (3) 183 - 191. 10.1042/BC20080053.

Li, YC; Dunn, L; Greggio, E; Krumm, B; Jackson, GS; Cookson, MR; Lewis, PA; (2009) The R1441C mutation alters the folding properties of the ROC domain of LRRK2. BBA-MOL BASIS DIS , 1792 (12) 1194 - 1197. 10.1016/j.bbadis.2009.09.010.


Camargos, S; Scholz, S; Simon-Sanchez, J; Paisan-Ruiz, C; Lewis, P; Hernandez, D; Ding, J; ... Singleton, AB; + view all (2008) DYT16, a novel young-onset dystonia-parkinson ism disorder: identification of a segregating mutation in the stress-response protein PRKRA. LANCET NEUROL , 7 (3) 207 - 215. 10.1016/S1474-4422(08)70022-X.

Camargos, S; Scholz, S; Simón-Sánchez, J; Paisán-Ruiz, C; Lewis, P; Hernandez, D; Ding, J; ... Singleton, AB; + view all (2008) DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. The Lancet Neurology , 7 (3) pp. 207-215. 10.1016/S1474-4422(08)70022-X.

Cookson, MR; Greggio, E; Lewis, P; (2008) The Role of LRRK2 Kinase Activity in Cellular PD Models. In: Parkinson's Disease. (pp. 423-431).

Cookson, MR; Hardy, J; Lewis, PA; (2008) Genetic Neuropathology of Parkinson's Disease. INT J CLIN EXP PATHO , 1 (3) 217 - 231. Gold open access

Deng, JP; Lewis, PA; Greggio, E; Sluch, E; Beilina, A; Cookson, MR; (2008) Structure of the ROC domain from the Parkinson's disease-associated leucine-rich repeat kinase 2 reveals a dimeric GTPase. P NATL ACAD SCI USA , 105 (5) 1499 - 1504. 10.1073/pnas.0709098105.

Devine, MJ; Lewis, PA; (2008) Emerging pathways in genetic Parkinson's disease: tangles, Lewy bodies and LRRK2. FEBS J , 275 (23) 5748 - 5757. 10.1111/j.1742-4658.2008.06707.x.

Greggio, E; Zambrano, I; Kaganovich, A; Beilina, A; Taymans, J-M; Daniels, V; Lewis, P; ... Cookson, MR; + view all (2008) The Parkinson disease-associated leucine-rich repeat kinase 2 (LRRK2) is a dimer that undergoes intramolecular autophosphorylation. JOURNAL OF BIOLOGICAL CHEMISTRY , 283 (24) pp. 16906-16914. 10.1074/jbc.M708718200.

Lewis, PA; (2008) Emerging pathways in genetic Parkinson's disease. FEBS J , 275 (23) 5747 - 5747. 10.1111/j.1742-4658.2008.06706.x.


Chandran, J; Lewis, P; (2007) Mad fly disease. JOURNAL OF NEUROSCIENCE , 27 (5) pp. 971-972. 10.1523/JNEUROSCI.5427-06.2007.

Greggio, E; Lewis, PA; van der Brug, MP; Ahmad, R; Kaganovich, A; Ding, JH; Beilina, A; ... Cookson, MR; + view all (2007) Mutations in LRRK2/dardarin associated with Parkinson disease are more toxic than equivalent mutations in the homologous kinase LRRK1. J NEUROCHEM , 102 (1) 93 - 102. 10.1111/j.1471-4159.2007.04523.x.

Hoe, H-S; Cooper, MJ; Burns, MP; Lewis, PA; van der Brug, M; Chakraborty, G; Cartagena, CM; ... Rebeck, GW; + view all (2007) The metalloprotease inhibitor TIMP-3 regulates amyloid precursor protein and apolipoprotein E receptor proteolysis. JOURNAL OF NEUROSCIENCE , 27 (40) pp. 10895-10905. 10.1523/JNEUROSCI.3135-07.2007.

Lewis, P.A.; Critchley, H.D.; Rotshtein, P.; Dolan, R.J.; (2007) Neural correlates of processing valence and arousal in affective words. Cerebral Cortex , 17 (3) pp. 742-748. 10.1093/cercor/bhk024. Green open access

Lewis, PA; Greggio, E; Beilina, A; Jain, S; Baker, A; Cookson, MR; (2007) The R1441C mutation of LRRK2 disrupts GTP hydrolysis. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS , 357 (3) pp. 668-671. 10.1016/j.bbrc.2007.04.006.


Greggio, E; Jain, S; Kingsbury, A; Bandopadhyay, R; Lewis, P; Kaganovich, A; van der Brug, MP; ... Cookson, MR; + view all (2006) Kinase activity is required for the toxic effects of mutant LRRK2/dardarin. NEUROBIOL DIS , 23 (2) 329 - 341. 10.1016/j.nbd.2006.04.001.

Lewis, PA; Properzi, F; Prodromidou, K; Clarke, AR; Collinge, J; Jackson, GS; (2006) Removal of the glycosylphosphatidylinositol anchor from PrPSc by cathepsin D does not reduce prion infectivity. BIOCHEM J , 395 443 - 448. 10.1042/BJ20051677. Gold open access

Lewis, PA; Tattum, MH; Jones, S; Bhelt, D; Batchelor, M; Clarke, AR; Collinge, J; (2006) Codon 129 polymorphism of the human prion protein influences the kinetics of amyloid formation. J GEN VIROL , 87 2443 - 2449. 10.1099/vir.0.81630-0.


Amtul, Z; Lewis, PA; Piper, S; Crook, R; Baker, M; Findlay, K; Singleton, A; ... Golde, TE; + view all (2002) A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch. NEUROBIOLOGY OF DISEASE , 9 (2) pp. 269-273. 10.1006/nbdi.2001.0473.

Tang-Wai, D; Lewis, P; Boeve, B; Hutton, M; Golde, T; Baker, M; Hardy, J; ... Petersen, R; + view all (2002) Familial frontotemporal dementia associated with a novel presenilin-1 mutation. DEMENTIA AND GERIATRIC COGNITIVE DISORDERS , 14 (1) pp. 13-21. 10.1159/000058328.


Lewis, PA; Piper, S; Baker, M; Onstead, L; Murphy, MP; Hardy, J; Wang, R; ... Golde, TE; + view all (2001) Expression of BRI-amyloid beta peptide fusion proteins: a novel method for specific high-level expression of amyloid beta peptides. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE , 1537 (1) pp. 58-62. 10.1016/S0925-4439(01)00054-0.

Mudher, A; Chapman, S; Richardson, J; Asuni, A; Gibb, G; Pollard, C; Killick, R; ... Lovestone, S; + view all (2001) Dishevelled regulates the metabolism of amyloid precursor protein via protein kinase C/mitogen-activated protein kinase and c-Jun terminal kinase. JOURNAL OF NEUROSCIENCE , 21 (14) pp. 4987-4995. 10.1523/JNEUROSCI.21-14-04987.2001.


Houlden, H; Baker, M; McGowan, E; Lewis, P; Hutton, M; Crook, R; Wood, NW; ... Revesz, T; + view all (2000) Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations. ANN NEUROL , 48 (5) 806 - 808.

Lewis, PA; Perez-Tur, J; Golde, TE; Hardy, J; (2000) The presenilin 1 C92S mutation increases A beta 42 production. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS , 277 (1) pp. 261-263. 10.1006/bbrc.2000.3646.

McLendon, C; Xin, TP; Ziani-Cherif, C; Murphy, MP; Findlay, KA; Lewis, PA; Pinnix, I; ... Golde, TE; + view all (2000) Cell-free assays for gamma-secretase activity. FASEB JOURNAL , 14 (15) pp. 2383-2386.

Murphy, MP; Uljon, SN; Fraser, PE; Fauq, A; Lookingbill, HA; Findlay, KA; Smith, TE; ... Golde, TE; + view all (2000) Presenilin 1 regulates pharmacologically distinct gamma-secretase activities - Implications for the role of presenilin in gamma-secretase cleavage. JOURNAL OF BIOLOGICAL CHEMISTRY , 275 (34) pp. 26277-26284. 10.1074/jbc.M002812200. Gold open access

This list was generated on Sun Nov 25 09:36:24 2018 GMT.

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