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Mutations in the gene encoding for glucocerebrosidase are the greatest known genetic risk factor for developing Parkinson's disease. Glucocerebrosidase is a lysosomal enzyme involved in sphingolipid metabolism. Impairment of the autophagy-lysosomal pathway is implicated in the accumulation/aggregation of alpha-synuclein and the mitochondrial dysfunction observed in Parkinson's disease. I am investigating the mechanisms by which glucocerebrosidase deficiency contributes to aberrant function of the autophagy-lysosome pathway.
Mutations in the gene encoding for glucocerebrosidase are the greatest known genetic risk factor for developing Parkinson's disease. Glucocerebrosidase is a lysosomal enzyme involved in sphingolipid metabolism. Impairment of the autophagy-lysosomal pathway is implicated in the accumulation/aggregation of alpha-synuclein and the mitochondrial dysfunction observed in Parkinson's disease. I am investigating the mechanisms by which glucocerebrosidase deficiency contributes to aberrant function of the autophagy-lysosome pathway.
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Papers共 63 篇Author StatisticsCo-AuthorSimilar Experts
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biorxiv(2024)
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Brain communicationsno. 6 (2023)
Disease models & mechanismsno. 6 (2023)
crossref(2020)
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