Loss of OCRL increases ciliary PI(4,5)P(2) in Lowe oculocerebrorenal syndrome

Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts and glaucoma, mental retardation, and proximal renal tubular dysfunction. Mutations in OCRL, an inositol polyphosphate 5-phosphatase that dephosphorylates PI(4,5)P(2), cause Lowe syndrome. Previously we showed...

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Detalhes bibliográficos
Publicado no:J Cell Sci
Main Authors: Prosseda, Philipp P., Luo, Na, Wang, Biao, Alvarado, Jorge A., Hu, Yang, Sun, Yang
Formato: Artigo
Idioma:Inglês
Publicado em: The Company of Biologists Ltd 2017
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5665444/
https://ncbi.nlm.nih.gov/pubmed/28871046
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/jcs.200857
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