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Article

A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13.

Human molecular genetics - 13 Mar 2020

Dziurdzik Samantha K, Bean Björn D M, Davey Michael, Conibear Elizabeth

Abstract excerpt

Mutations in each of the four human VPS13 (VPS13A-D) proteins are associated with distinct neurological disorders: chorea-acanthocytosis, Cohen syndrome, early-onset Parkinson's disease and spastic ataxia. Recent evidence suggests that the different VPS13 paralogs transport lipids between organelles at different membrane contact sites. How each VPS13 isoform is targeted to organelles is not known. We have shown...

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Identifiers

PMID: 31943017
DOI: 10.1093/hmg/ddz318
PMCID: PMC7068118

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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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