Article
Rare Variants in Specific Lysosomal Genes Are Associated With Parkinson's Disease.
Movement disorders : official journal of the Movement Disorder Society - 1 Jul 2020
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 excerpt
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...
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