Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients.

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...

Full description

Bibliographic Details
Main Authors: Natalia V Strunnikova, Jennifer Barb, Yuri V Sergeev, Ashwin Thiagarajasubramanian, Christopher Silvin, Peter J Munson, Ian M Macdonald
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2009-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC2793004?pdf=render

Internet

http://europepmc.org/articles/PMC2793004?pdf=render

Similar Items