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Mutations of the GBA gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), are the greatest genetic risk factor for Parkinson’s disease (PD) with frequency between 5% and 20% across the world.
Mikhail Nikolaev +2 more
exaly +2 more sources
GBA Variants and Parkinson Disease: Mechanisms and Treatments [PDF]
The GBA gene encodes for the lysosomal enzyme glucocerebrosidase (GCase), which maintains glycosphingolipid homeostasis. Approximately 5–15% of PD patients have mutations in the GBA gene, making it numerically the most important genetic risk factor for ...
Laura Smith
exaly +2 more sources
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Sphingolipid changes in Parkinson L444P GBA mutation fibroblasts promote α-synuclein aggregation
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GBA Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes
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Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk
Movement Disorders, 2022Rosanna Asselta +2 more
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A “dose” effect of mutations in the GBA gene on Parkinson's disease phenotype
Parkinsonism and Related Disorders, 2017Avner Thaler +2 more
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Parkinson's disease phenotype is influenced by the severity of the mutations in the GBA gene
Parkinsonism and Related Disorders, 2018Avner Thaler +2 more
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