Article

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

2019-09-13

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 th...

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Literature Corpus work: 8104e7ee-ac54-5c13-82f7-e63713dda9a7
DOI: 10.1101/768366

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