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Titel:

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

Dokumenttyp:
Journal Article
Autor(en):
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...     »
Zeitschriftentitel:
Mov Disord
Jahr:
2020
Band / Volume:
35
Heft / Issue:
7
Seitenangaben Beitrag:
1245-1248
Volltext / DOI:
doi:10.1002/mds.28037
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/32267580
Print-ISSN:
0885-3185
TUM Einrichtung:
1452; 658; Institut für Humangenetik; Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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