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Lowe syndrome: Between primary cilia assembly and Rac1-mediated membrane remodeling
Lowe syndrome (LS) is a lethal X-linked genetic disease caused by functional deficiencies of the phosphatidlyinositol 5-phosphatase, Ocrl1. In the past four years, our lab described the first Ocrl1-specific cellular phenotypes using dermal fibroblasts from LS patients. These phenotypes, validated in...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Landes Bioscience
2012
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3541337/ https://ncbi.nlm.nih.gov/pubmed/23739214 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/cib.21952 |
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