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Article

The Uncovered Function of the Drosophila GBA1a-Encoded Protein.

Cells - 12 Mar 2021

Cabasso Or, Paul Sumit, Maor Gali, Pasmanik-Chor Metsada, Kallemeijn Wouter, Aerts Johannes, Horowitz Mia

Abstract excerpt

Human GBA1 encodes lysosomal acid β-glucocerebrosidase (GCase), which hydrolyzes cleavage of the beta-glucosidic linkage of glucosylceramide (GlcCer). Mutations in this gene lead to reduced GCase activity, accumulation of glucosylceramide and glucosylsphingosine, and development of Gaucher disease (GD). Drosophila melanogaster has two GBA1 orthologs. Thus far, GBA1b was documented as a bone fide GCase-encoding...

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Identifiers

PMID: 33809074
DOI: 10.3390/cells10030630
PMCID: PMC8000066

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