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Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration

Defects in biogenesis or function(s) of primary cilia are associated with numerous inherited disorders (called ciliopathies) that may include retinal degeneration phenotype. The cilia-expressed gene RPGR (retinitis pigmentosa GTPase regulator) is mutated in patients with X-linked retinitis pigmentos...

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Detalles Bibliográficos
Autores principales: Murga-Zamalloa, Carlos A., Atkins, Stephen J., Peranen, Johan, Swaroop, Anand, Khanna, Hemant
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2928130/
https://www.ncbi.nlm.nih.gov/pubmed/20631154
http://dx.doi.org/10.1093/hmg/ddq275