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Article

Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes.

Journal of inherited metabolic disease - 1 Sept 2013

Burke Derek G, Rahim Ahad A, Waddington Simon N, Karlsson Stefan, Enquist Ida, Bhatia Kailash, Mehta Atul, Vellodi Ashok, Heales Simon

Abstract excerpt

Lysosomal glucocerebrosidase (GBA1) deficiency is causative for Gaucher disease. Not all individuals with GBA1 mutations develop neurological involvement raising the possibility that other factors may provide compensatory protection. One factor may be the activity of the non-lysosomal β-glucosidase (GBA2) which exhibits catalytic activity towards glucosylceramide and is reported to be highly expressed in brain...

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Source

Identifiers

PMID: 23151684
DOI: 10.1007/s10545-012-9561-3

Genes

GBA2
GBA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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