P
Patrick M. Abou-Sleiman
Researcher at University College London
Publications - 50
Citations - 8786
Patrick M. Abou-Sleiman is an academic researcher from University College London. The author has contributed to research in topics: Parkinson's disease & PINK1. The author has an hindex of 31, co-authored 50 publications receiving 8236 citations. Previous affiliations of Patrick M. Abou-Sleiman include UCL Institute of Neurology & Queen's University.
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Journal ArticleDOI
Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1
Eriza Maria Valente,Patrick M. Abou-Sleiman,Viviana Caputo,Miratul M. K. Muqit,Kirsten Harvey,Suzana Gispert,Zeeshan Ali,Domenico Del Turco,Anna Rita Bentivoglio,Daniel G. Healy,Alberto Albanese,Robert L. Nussbaum,Rafael González-Maldonado,Thomas Deller,S Salvi,Pietro Cortelli,William P. Gilks,David S. Latchman,Roberk J. Harvey,Bruno Dallapiccola,Georg Auburger,Nicholas W. Wood +21 more
TL;DR: The identification of two homozygous mutations affecting the PINK1 kinase domain in three consanguineous PARK6 families provide a direct molecular link between mitochondria and the pathogenesis of PD.
Journal ArticleDOI
Expanding insights of mitochondrial dysfunction in Parkinson's disease
TL;DR: How DJ1, PINK1 and OMI/HTRA2 fit into and enhance the understanding of the role of mitochondrial dysfunction in Parkinson's disease are reviewed, and how oxidative stress might be a potential unifying factor in the aetiopathogenesis of the disease is considered.
Journal ArticleDOI
A common LRRK2 mutation in idiopathic Parkinson's disease
William P. Gilks,Patrick M. Abou-Sleiman,Sonia Gandhi,Shushant Jain,Andrew B. Singleton,Andrew J. Lees,Karen Shaw,Kailash P. Bhatia,Vincenzo Bonifati,Niall Quinn,John B. Lynch,Daniel G. Healy,Janice L. Holton,Tamas Revesz,Nicholas W. Wood +14 more
TL;DR: It is shown that a common single Mendelian mutation, 2877510 g-->A, which produces a glycine to serine aminoacid substitution at codon 2019 (Gly2019 ser), in idiopathic Parkinson's disease, and suggested that testing for this mutation will be important in the management and genetic counselling of patients with Parkinson's Disease.
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The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease.
Rina Bandopadhyay,Ann E. Kingsbury,Mark R. Cookson,Andrew R. Reid,Ian M. Evans,Andrew D. Hope,Alan M. Pittman,Tammaryn Lashley,Rosa M. Canet-Avilés,David Miller,Chris McLendon,C Strand,A.J. Leonard,Patrick M. Abou-Sleiman,Daniel G. Healy,Hiroyashi Ariga,Nicholas W. Wood,Rohan de Silva,Tamas Revesz,John Hardy,Andrew J. Lees +20 more
TL;DR: It is concluded that DJ-1 is not an essential component of LBs and Lewy neurites, is expressed mainly by astrocytes in human brain tissue and is sensitive to oxidative stress conditions, consistent with the hypothesis that neuronal-glial interactions are important in the pathophysiology of Parkinson's disease.
Journal ArticleDOI
The role of pathogenic DJ-1 mutations in Parkinson's disease
TL;DR: No mutations were found in the cohort of later onset sporadic pathologically confirmed cases, suggesting that DJ‐1 mutations may only rarely contribute to the cause of this more typical sporadic form of the disease.