Transcriptomics

Dataset Information

0

Loss-of-function mutations in REP-1 affect intracellular vesicle transport in fibroblasts and monocytes of CHM patients


ABSTRACT: 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. To evaluate this hypothesis, intracellular vesicle transport, lysosomal acidification and rates of proteolytic degradation were studied in monocytes (CD14+ fraction) and primary skin fibroblasts from the nine age-matched controls and thirteen CHM patients carrying 10 different loss-of-function mutations.

ORGANISM(S): Homo sapiens

PROVIDER: GSE17549 | GEO | 2010/01/27

SECONDARY ACCESSION(S): PRJNA118547

REPOSITORIES: GEO

Dataset's files

Source:
Action DRS
Other
Items per page:
1 - 1 of 1

Similar Datasets

2010-02-21 | E-GEOD-17549 | biostudies-arrayexpress
2023-02-28 | GSE226265 | GEO
2019-03-29 | PXD009155 | Pride
2013-04-15 | GSE45283 | GEO
2013-04-15 | E-GEOD-45283 | biostudies-arrayexpress
| PRJNA118547 | ENA
| PRJEB20003 | ENA
2021-10-20 | GSE178316 | GEO
2024-01-26 | PXD032398 | Pride
2020-07-10 | PXD018011 | Pride