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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.

Emma Deas

(Senior Postdoctoral Research Fellow)

My interest in studying basic molecular and biochemical pathways and their dysregulation in disease has been the driving force behind the progression of my scientific career. I graduated from Edinburgh University in 2000 with a BSc Hons in Developmental Biology and was selected to undertake a PhD within the laboratory of Professor Pascal Meier at the prestigious Toby Robins Breakthrough Breast Cancer centre within the Institute of Cancer Research, London. My PhD studies focused on apoptosis pathways, specifically mechanisms of caspase activation using Drosophila melanogaster as a model organism and translating the findings into mammalian studies. During this work I identified a novel kinase involved in caspase activation. After graduating with my PhD in 2005, I undertook a short postdoctoral appointment at the School of Pharmacy in Professor Robert Harvey’s laboratory studying the Parkinson’s Disease (PD) related protein kinase PINK1. I was subsequently hired by Professor Nicholas W Wood at the UCL Institute of Neurology in 2007 to continue these studies using mammalian cell systems. I am currently a senior postdoctoral researcher employed under a strategic award from the MRC/Wellcome trust to investigate the underlying mechanisms of PD and aim to establish my own laboratory within the Institute of Neurology in the near future. At present Dr Deas supervises BSc and clinical MSc students in addition to aiding in PhD student supervision. Postdoctoral appointments under Dr Deas are currently under consideration with the relevant funding bodies


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Number of items: 25.


Tufi, R; Gandhi, S; de Castro, IP; Lehmann, S; Angelova, PR; Dinsdale, D; Deas, E; (2014) Enhancing nucleotide metabolism protects against mitochondrial dysfunction and neurodegeneration in a PINK1 model of Parkinson's disease. Nat Cell Biol , 16 (2) pp. 157-166. 10.1038/ncb2901.


Duran, R; Mencacci, NE; Angeli, AV; Shoai, M; Deas, E; Houlden, H; Mehta, A; (2013) The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Movement Disorders , 28 (2) 232 - 236. 10.1002/mds.25248. Green open access

Siddall, HK; Yellon, DM; Ong, SB; Mukherjee, UA; Burke, N; Hall, AR; Angelova, PR; (2013) Loss of PINK1 Increases the Heart's Vulnerability to Ischemia-Reperfusion Injury. PLoS One , 8 (4) , Article e62400. 10.1371/journal.pone.0062400. Green open access

Wood-Kaczmar, A; Deas, E; Wood, NW; Abramov, AY; (2013) The Role of the Mitochondrial NCX in the Mechanism of Neurodegeneration in Parkinson's Disease. SODIUM CALCIUM EXCHANGE: A GROWING SPECTRUM OF PATHOPHYSIOLOGICAL IMPLICATIONS , 961 pp. 241-249. 10.1007/978-1-4614-4756-6_20.


Cremades, N; Cohen, SIA; Deas, E; Abramov, AY; Chen, AY; Orte, A; Sandal, M; (2012) Direct Observation of the Interconversion of Normal and Toxic Forms of alpha-Synuclein. CELL , 149 (5) pp. 1048-1059. 10.1016/j.cell.2012.03.037.

Pimenta de Castro, I; Costa, AC; Lam, D; Tufi, R; Fedele, V; Moisoi, N; Dinsdale, D; (2012) Genetic analysis of mitochondrial protein misfolding in Drosophila melanogaster. Cell Death Differ , 19 (8) pp. 1308-1316. 10.1038/cdd.2012.5.

Plun-Favreau, H; Burchell, VS; Holmström, KM; Yao, Z; Deas, E; Cain, K; Fedele, V; (2012) HtrA2 deficiency causes mitochondrial uncoupling through the F₁F₀-ATP synthase and consequent ATP depletion. Cell Death and Disease , 3 , Article e335. 10.1038/cddis.2012.77. Green open access


Deas, E; Plun-Favreau, H; Gandhi, S; Desmond, H; Kjaer, S; Loh, SHY; Renton, AEM; (2011) PINK1 cleavage at position A103 by the mitochondrial protease PARL. Human Molecular Genetics , 20 (5) pp. 867-879. 10.1093/hmg/ddq526. Green open access

Deas, E; Wood, NW; Plun-Favreau, H; (2011) Mitophagy and Parkinson's disease: The PINK1-parkin link. BBA-MOL CELL RES , 1813 (4) 623 - 633. 10.1016/j.bbamcr.2010.08.007.


Burchell, VS; Gandhi, S; Deas, E; Wood, NW; Abramov, AY; Plun-Favreau, H; (2010) Targeting mitochondrial dysfunction in neurodegenerative disease: Part II. EXPERT OPIN THER TAR , 14 (5) 497 - 511. 10.1517/14728221003730434.

Burchell, VS; Gandhi, S; Deas, E; Wood, NW; Abramov, AY; Plun-Favreau, H; (2010) Targeting mitochondrial dysfunction in neurodegenerative disease: Part I. EXPERT OPIN THER TAR , 14 (4) 369 - 385. 10.1517/14728221003652489.

Deas, E; Dunn, L; (2010) Unraveling LRRK2 Pathogenesis: Common Pathways for Complex Genes? J NEUROSCI , 30 (5) 1577 - 1579. 10.1523/JNEUROSCI.5531-09.2010.


Deas, E; Plun-Favreau, H; Wood, NW; (2009) PINK1 function in health and disease. EMBO MOL MED , 1 (3) 152 - 165. 10.1002/emmm.200900024. Gold open access

Gandhi, S; Wood-Kaczmar, A; Yao, Z; Plun-Favreau, H; Deas, E; Klupsch, K; Downward, J; (2009) PINK1-Associated Parkinson's Disease Is Caused by Neuronal Vulnerability to Calcium-induced Cell Death. MOL CELL , 33 (5) 627 - 638. 10.1016/j.molcel.2009.02.013. Gold open access

Kalscheuer, VM; Musante, L; Fang, C; Hoffmann, K; Fuchs, C; Carta, E; Deas, E; (2009) A Balanced Chromosomal Translocation Disrupting ARHGEF9 Is Associated With Epilepsy, Anxiety, Aggression, and Mental Retardation. HUM MUTAT , 30 (1) 61 - 68. 10.1002/humu.20814.

Neumann, J; Bras, J; Deas, E; O'Sullivan, SS; Parkkinen, L; Lachmann, RH; Li, A; (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. BRAIN , 132 1783 - 1794. 10.1093/brain/awp044. Gold open access

Neumann, J; Parkkinen, L; Bras, J; O'sullivan, SS; Deas, E; Lachmann, H; Li, A; (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 3 - 3). BLACKWELL PUBLISHING


Plun-Favreau, H; Gandhi, S; Wood-Kaczmar, A; Deas, E; Yao, Z; Wood, NW; (2008) What Have PINK1 and HtrA2 Genes Told Us about the Role of Mitochondria in Parkinson's Disease? MITOCHONDRIA AND OXIDATIVE STRESS IN NEURODEGENERATIVE DISORDERS , 1147 30 - 36. 10.1196/annals.1427.032.

Wood-Kaczmar, A; Gandhi, S; Yao, Z; Abramov, ASY; Miljan, EA; Keen, G; Stanyer, L; (2008) PINK1 Is Necessary for Long Term Survival and Mitochondrial Function in Human Dopaminergic Neurons. PLOS ONE , 3 (6) , Article e2455. 10.1371/journal.pone.0002455. Green open access


Plun-Favreau, H; Klupsch, K; Moisoi, N; Gandhi, S; Kjaer, S; Frith, D; Harvey, K; (2007) The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1. NAT CELL BIOL , 9 (11) 1243 - U63. 10.1038/ncb1644.


Abou-Sleiman, PM; Muqit, MMK; McDonald, NQ; Yang, YX; Gandhi, S; Healy, DG; Harvey, K; (2006) A heterozygous effect for PINK1 mutations in Parkinson's disease? ANN NEUROL , 60 (4) 414 - 419. 10.1002/ana.20960.

Abou-Sleiman, PM; Muqit, MMK; McDonald, NQ; Yang, YX; Gandhi, S; Healy, DG; Harvey, K; (2006) A heterozygous effect for PINK1 mutations in Parkinson's disease? ANN NEUROL , 60 (4) pp. 414-419. 10.1002/ana.20960.

Muqit, MM; Gandhi, S; Deas, E; Abou-Sleiman, PM; Harvey, K; Harvey, RJ; Wood, NW; (2006) A site-directed mutagenesis study of putative cleavage sites of the Parkinson's disease associated gene, PINK1. In: MOVEMENT DISORDERS. (pp. S560 - S560). WILEY-LISS

Muqit, MMK; Abou-Sleiman, PM; Saurin, AT; Harvey, K; Gandhi, S; Deas, E; Eaton, S; (2006) Altered cleavage and localization of PINK1 to aggresomes in the presence of proteasomal stress. J NEUROCHEM , 98 (1) 156 - 169. 10.1111/j.1471-4159.2006.03845.x.


Ditzel, M; Wilson, R; Tenev, T; Zachariou, A; Paul, A; Deas, E; Meier, P; (2003) Degradation of DIAP1 by the N-end rule pathway is essential for regulating apoptosis. NAT CELL BIOL , 5 (5) 467 - 473. 10.1038/ncb984.

This list was generated on Sun Oct 23 17:17:23 2016 BST.

Page last modified on 19 mar 13 16:57