Absence of Sac2/INPP5F enhances the phenotype of a Parkinson’s disease mutation of synaptojanin 1

Numerous genes whose mutations cause, or increase the risk of, Parkinson’s disease (PD) have been identified. An inactivating mutation (R258Q) in the Sac inositol phosphatase domain of synaptojanin 1 (SJ1/PARK20), a phosphoinositide phosphatase implicated in synaptic vesicle recycling, results in PD...

Descripción completa

Detalles Bibliográficos
Autores principales: Cao, Mian, Park, Daehun, Wu, Yumei, De Camilli, Pietro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2020
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275725/
https://www.ncbi.nlm.nih.gov/pubmed/32424101
http://dx.doi.org/10.1073/pnas.2004335117

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275725/
https://www.ncbi.nlm.nih.gov/pubmed/32424101
http://dx.doi.org/10.1073/pnas.2004335117

Ejemplares similares