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A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1
The oculocerebrorenal syndrome of Lowe (OCRL), also called Lowe syndrome, is characterized by defects of the nervous system, the eye and the kidney. Lowe syndrome is a monogenetic X-linked disease caused by mutations of the inositol-5-phosphatase OCRL1. OCRL1 is a membrane-bound protein recruited to...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Nature Publishing Group
2011
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3102282/ https://ncbi.nlm.nih.gov/pubmed/21378754 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/emboj.2011.60 |
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