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The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

Duran, R; Mencacci, NE; Angeli, AV; Shoai, M; Deas, E; Houlden, H; Mehta, A; ... 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

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Abstract

Heterozygous loss-of-function mutations in the acid beta-glucocerebrosidase (GBA1) gene, responsible for the recessive lysosomal storage disorder, Gaucher's disease (GD), are the strongest known risk factor for Parkinson's disease (PD). Our aim was to assess the contribution of GBA1 mutations in a series of early-onset PD.

Type: Article
Title: The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/mds.25248
Publisher version: http://dx.doi.org/10.1002/mds.25248
Language: English
Keywords: Adult, Age of Onset, DNA, Databases, Genetic, European Continental Ancestry Group, Exons, Female, Gaucher Disease, Gene Frequency, Glucosylceramidase, Great Britain, Humans, Leukocytes, Lewy Body Disease, Male, Middle Aged, Molecular Sequence Data, Mutation, Open Reading Frames, Parkinson Disease, Protein-Serine-Threonine Kinases, Sequence Analysis, DNA, Ubiquitin-Protein Ligases, Young Adult
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Haematology
URI: http://discovery.ucl.ac.uk/id/eprint/1380065
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