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Article

Gaucher disease provides a unique window into Parkinson disease pathogenesis.

Nature reviews. Neurology - 1 Sept 2024

Hertz Ellen, Chen Yu, Sidransky Ellen

Abstract excerpt

An exciting development in the field of neurodegeneration is the association between the rare monogenic disorder Gaucher disease and the common complex disorder Parkinson disease (PD). Gaucher disease is a lysosomal storage disorder resulting from an inherited deficiency of the enzyme glucocerebrosidase, encoded by GBA1, which hydrolyses the glycosphingolipids glucosylceramide and glucosylsphingosine. The...

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PMID: 39107435
DOI: 10.1038/s41582-024-00999-z

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