About the Consortium

UK Parkinson's Disease Consortium (UKPDC) is 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 have 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





http://www.wellcome.ac.uk/ http://www.mrc.ac.uk/ charity we’re leading the work to find a cure, and we're closer than ever. We also



http://www.parkinsons.org.uk 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.

Principal Investigators

Co-Investigators

UKPDC news

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

Publications

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

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. https://doi.org/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. https://doi.org/10.1002/mds.25713

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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. https://doi.org/10.1159/000354670

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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