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Article

Truncated mutants of beta-glucosidase 2 (GBA2) are localized in the mitochondrial matrix and cause mitochondrial fragmentation.

PloS one - 1 Jan 2020

Sultana Saki, Stewart Jacklyn, van der Spoel Aarnoud C

Abstract excerpt

The enzyme β-glucosidase 2 (GBA2) is clinically relevant because it is targeted by the drug miglustat (Zavesca®) and because it is involved in inherited diseases. Mutations in the GBA2 gene are associated with two neurological diseases on the ataxia-spasticity spectrum, hereditary spastic paraplegia 46 (SPG46) and Marinesco-Sjögren-like syndrome (MSS). To establish how GBA2 mutations give rise to neurological...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Potential, Mitochondrial

Share to Microscopy, Electron

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Share to Spastic Paraplegia, Hereditary

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Source

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Identifiers

PMID: 32492073
DOI: 10.1371/journal.pone.0233856
PMCID: PMC7269613

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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