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A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13
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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7068118/ https://www.ncbi.nlm.nih.gov/pubmed/31943017 http://dx.doi.org/10.1093/hmg/ddz318 |