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Recognition of the F&H motif by the Lowe Syndrome protein OCRL
Lowe syndrome and Type 2 Dent disease are caused by defects in the inositol 5-phosphatase OCRL. Most missense mutations in the OCRL ASH-RhoGAP domain found in affected patients abolish interactions with the endocytic adaptors APPL1 and Ses (both Ses1 and Ses2), which bind OCRL through a short F&...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3130824/ https://www.ncbi.nlm.nih.gov/pubmed/21666675 http://dx.doi.org/10.1038/nsmb.2071 |