Parkinsonism Sac domain mutation in Synaptojanin-1 affects ciliary properties in iPSC-derived dopaminergic neurons

Synaptojanin-1 (SJ1) is a major neuronal-enriched PI(4,5)P(2) 4- and 5-phosphatase implicated in the shedding of endocytic factors during endocytosis. A mutation (R258Q) that impairs selectively its 4-phosphatase activity causes Parkinsonism in humans and neurological defects in mice (SJ1(RQ)KI mice...

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Detalles Bibliográficos
Autores principales: Rafiq, Nisha Mohd, Fujise, Kenshiro, Rosenfeld, Martin Shaun, Xu, Peng, Wu, Yumei, De Camilli, Pietro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10592818/
https://www.ncbi.nlm.nih.gov/pubmed/37873399
http://dx.doi.org/10.1101/2023.10.12.562142

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10592818/
https://www.ncbi.nlm.nih.gov/pubmed/37873399
http://dx.doi.org/10.1101/2023.10.12.562142

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