Loss-of-Function Mutations in Rab Escort Protein 1 (REP-1) Affect Intracellular Transport in Fibroblasts and Monocytes of Choroideremia Patients

BACKGROUND: Choroideremia (CHM) is a progressive X-linked retinopathy caused by mutations in the CHM gene, which encodes Rab escort protein-1 (REP-1), an escort protein involved in the prenylation of Rabs. Under-prenylation of certain Rabs, as a result of loss of function mutations in REP-1, could a...

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Detalles Bibliográficos
Autores principales: Strunnikova, Natalia V., Barb, Jennifer, Sergeev, Yuri V., Thiagarajasubramanian, Ashwin, Silvin, Christopher, Munson, Peter J., MacDonald, Ian M.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2793004/
https://www.ncbi.nlm.nih.gov/pubmed/20027300
http://dx.doi.org/10.1371/journal.pone.0008402

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2793004/
https://www.ncbi.nlm.nih.gov/pubmed/20027300
http://dx.doi.org/10.1371/journal.pone.0008402

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