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.

Leonard Wolfson Experimental Neurology Centre (LWENC)

The new Leonard Wolfson Experimental Neurology Centre (LWENC) has opened for clinical studies and trials


Audioslide presentation on Claudia Manzoni's paper examining how fibroblasts with LRRK2 mutations react to starvation conditions and the possible deficits that they have in autophagy.

LRRK2 and autophagy in fibroblasts

In this paper Claudia Manzoni studies how fibroblast cells from people with Parkinson’s disease caused by mutations in LRRK2 react to starvation. Although the changes are quite subtle, there are differences between the way that fibroblasts that contain mutant LRRK2 respond to being starved – suggesting that there may be changes in the way that these cells regulate a key process called autophagy (a term which comes from the greek meaning to eat yourself, and is one of the ways that cells get rid of waste and recycle proteins and organellles).

Drosophila fly model - University of Sheffield

Genetic mutations linked to Parkinson's disease

Research led by consortium researchers Dr Helene Plun-Favreau (UCL Institute of Neurology) and Dr Alex Whitworth (University of Sheffield), and collaborator Dr Heike Laman (University of Cambridge), has discovered how genetic mutations linked to Parkinson’s disease might play a key role in the death of brain cells, potentially paving the way for the development of more effective drug treatments. In the new study, published in Nature Neuroscience, the team of cross-institutional researchers showed how defects in the Parkinson’s gene Fbxo7 cause problems with mitophagy. More...

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; ... Martins, LM; + view all (2014) Enhancing nucleotide metabolism protects against mitochondrial dysfunction and neurodegeneration in a PINK1 model of Parkinson's disease. Nat Cell Biol , 16 (2) 157 - 166. 10.1038/ncb2901.


Duran, R; Mencacci, NE; Angeli, AV; Shoai, M; Deas, E; Houlden, H; ... Foltynie, T; + view all (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; ... Hausenloy, DJ; + view all (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. Adv Exp Med Biol , 961 241 - 249. 10.1007/978-1-4614-4756-6_20.


Cremades, N; Cohen, SI; Deas, E; Abramov, AY; Chen, AY; Orte, A; ... Klenerman, D; + view all (2012) Direct observation of the interconversion of normal and toxic forms of α-synuclein. Cell , 149 (5) 1048 - 1059. 10.1016/j.cell.2012.03.037.

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

Plun-Favreau, H; Burchell, VS; Holmström, KM; Yao, Z; Deas, E; Cain, K; ... Abramov, AY; + view all (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; ... Wood, NW; + view all (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; ... Abramov, AY; + view all (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; ... Harvey, RJ; + view all (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; ... Wood, NW; + view all (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; ... Wood, NW; + view all (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; ... Wood, NW; + view all (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; ... Downward, J; + view all (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; ... Wood, NW; + view all (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; ... Wood, NW; + view all (2006) A heterozygous effect for PINK1 mutations in Parkinson's disease? ANN NEUROL , 60 (4) 414 - 419. 10.1002/ana.20960.

Muqit, MM; Gandhi, S; Deas, E; Abou-Sleiman, PM; Harvey, K; Harvey, RJ; ... Latchman, DS; + view all (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; ... Latchman, DS; + view all (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.

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Page last modified on 19 mar 13 16:57