A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13
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DOI: 10.1093/hmg/ddz318
Abstract: Abstract 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… read more here.
Keywords: yeast vps13; spastic ataxia; vps13; vab domain ... See more keywords