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Article

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

Biochemical and biophysical research communications - 11 Sept 2015

Sultana Saki, Reichbauer Jennifer, Schüle Rebecca, Mochel Fanny, Synofzik Matthis, van der Spoel Aarnoud C

Abstract excerpt

Glucosylceramide is a membrane glycolipid made up of the sphingolipid ceramide and glucose, and has a wide intracellular distribution. Glucosylceramide is degraded to ceramide and glucose by distinct, non-homologous enzymes, including glucocerebrosidase (GBA), localized in the endolysosomal pathway, and β-glucosidase 2 (GBA2), which is associated with the plasma membrane and/or the endoplasmic reticulum. It is...

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Source

Identifiers

PMID: 26220345
DOI: 10.1016/j.bbrc.2015.07.112

Genes

GBA2

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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