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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...
Tallennettuna:
| Julkaisussa: | J Cell Sci |
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| Päätekijät: | , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
The Company of Biologists Ltd
2017
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| Aiheet: | |
| Linkit: | 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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