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The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway
Mutation of the inositol polyphosphate 5-phosphatase OCRL1 results in two disorders in humans, namely Lowe syndrome (characterized by ocular, nervous system, and renal defects) and type 2 Dent disease (in which only the renal symptoms are evident). The disease mechanisms of these syndromes are poorl...
| Autores principales: | , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
The American Society for Cell Biology
2011
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3046058/ https://www.ncbi.nlm.nih.gov/pubmed/21233288 http://dx.doi.org/10.1091/mbc.E10-08-0730 |