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Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe
Inositol phosphatases are important regulators of cell signaling, polarity, and vesicular trafficking. Mutations in OCRL, an inositol polyphosphate 5-phosphatase, result in Oculocerebrorenal syndrome of Lowe, an X-linked recessive disorder that presents with congenital cataracts, glaucoma, renal dys...
Autores principales: | Luo, Na, Kumar, Akhilesh, Conwell, Michael, Weinreb, Robert N., Anderson, Ryan, Sun, Yang |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3689662/ https://www.ncbi.nlm.nih.gov/pubmed/23805271 http://dx.doi.org/10.1371/journal.pone.0066727 |
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