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

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 lipids between o...

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Veröffentlicht in:	Human molecular genetics 2020-03, Vol.29 (4), p.635-648
Hauptverfasser:	Dziurdzik, Samantha K, Bean, Björn D M, Davey, Michael, Conibear, Elizabeth
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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