Article
Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing.
Annals of neurology - 1 Jun 2011
Cullen Valerie, Sardi S Pablo, Ng Juliana, Xu You-Hai, Sun Ying, Tomlinson Julianna J, Kolodziej Piotr, Kahn Ilana, Saftig Paul, Woulfe John, Rochet Jean-Christophe, Glicksman Marcie A, Cheng Seng H, Grabowski Gregory A, Shihabuddin Lamya S, Schlossmacher Michael G
Abstract excerpt
OBJECTIVE: Heterozygous mutations in the GBA1 gene elevate the risk of Parkinson disease and dementia with Lewy bodies; both disorders are characterized by misprocessing of α-synuclein (SNCA). A loss in lysosomal acid-β-glucosidase enzyme (GCase) activity due to biallelic GBA1 mutations underlies Gaucher disease. We explored mechanisms for the gene's association with increased synucleinopathy risk. METHODS: We...
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