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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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Detalles Bibliográficos
Autores principales:	Madhivanan, Kayalvizhi, Mukherjee, Debarati, Aguilar, R. Claudio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Landes Bioscience 2012
Materias:	Article Addendum
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3541337/ https://www.ncbi.nlm.nih.gov/pubmed/23739214 http://dx.doi.org/10.4161/cib.21952

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