Ontology highlight
ABSTRACT:
SUBMITTER: Sarkar H
PROVIDER: S-EPMC10525549 | biostudies-literature | 2023 Aug
REPOSITORIES: biostudies-literature
Sarkar Hajrah H Lahne Manuela M Nair Neelima N Moosajee Mariya M
Antioxidants (Basel, Switzerland) 20230830 9
Choroideremia (CHM) is a rare X-linked chorioretinal dystrophy, affecting the photoreceptors, retinal pigment epithelium (RPE) and choroid, with no approved therapy. CHM is caused by mutations in the <i>CHM</i> gene, which encodes the ubiquitously expressed Rab escort protein 1 (REP1). REP1 is involved in prenylation, a post-translational modification of Rab proteins, and plays an essential role in intracellular trafficking. In this study, we examined oxidative and endoplasmic reticulum (ER) str ...[more]