A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13
Sign Up to like & getrecommendations! Published in 2020 at "Human Molecular Genetics"
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
Genetic Dissection of Vps13 Regulation in Yeast Using Disease Mutations from Human Orthologs
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22126200
Abstract: The VPS13 family of proteins have emerged as key players in intracellular lipid transport and human health. Humans have four different VPS13 orthologs, the dysfunction of which leads to different diseases. Yeast has a single… read more here.
Keywords: dissection vps13; yeast vps13; vps13; vps13 regulation ... See more keywords