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Title:

Rare Variants in Specific Lysosomal Genes Are Associated With Parkinson's Disease.

Document type:
Journal Article
Author(s):
Hopfner, Franziska; Mueller, Stefanie H; Szymczak, Silke; Junge, Olaf; Tittmann, Lukas; May, Sandra; Lohmann, Katja; Grallert, Harald; Lieb, Wolfgang; Strauch, Konstantin; Müller-Nurasyid, Martina; Berger, Klaus; Schormair, Barbara; Winkelmann, Juliane; Mollenhauer, Brit; Trenkwalder, Claudia; Maetzler, Walter; Berg, Daniela; Kasten, Meike; Klein, Christine; Höglinger, Günter U; Gasser, Thomas; Deuschl, Günther; Franke, André; Krawczak, Michael; Dempfle, Astrid; Kuhlenbäumer, Gregor
Abstract:
OBJECTIVE: Impaired lysosomal degradation of α-synuclein and other cellular constituents may play an important role in Parkinson's disease (PD). Rare genetic variants in the glucocerebrosidase (GBA) gene were consistently associated with PD. Here we examine the association between rare variants in lysosomal candidate genes and PD. METHODS: We investigated the association between PD and rare genetic variants in 23 lysosomal candidate genes in 4096 patients with PD and an equal number of controls...     »
Journal title abbreviation:
Mov Disord
Year:
2020
Journal volume:
35
Journal issue:
7
Pages contribution:
1245-1248
Fulltext / DOI:
doi:10.1002/mds.28037
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/32267580
Print-ISSN:
0885-3185
TUM Institution:
1452; 658; Institut für Humangenetik; Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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