Article
Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients.
PloS one - 22 Dec 2009
Strunnikova Natalia V, Barb Jennifer, Sergeev Yuri V, Thiagarajasubramanian Ashwin, Silvin Christopher, Munson Peter J, Macdonald Ian M
Abstract excerpt
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 affect vesicular trafficking, exocytosis and secretion in peripheral cells of CHM patients. METHODOLOGY/PRINCIPAL...
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