REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia
Sign Up to like & getrecommendations! Published in 2021 at "JCI Insight"
DOI: 10.1172/jci.insight.146934
Abstract: Choroideremia (CHM) is an X-linked recessive chorioretinal dystrophy caused by mutations in CHM, encoding for Rab escort protein 1 (REP1). Loss of functional REP1 leads to the accumulation of unprenylated Rab proteins and defective intracellular… read more here.
Keywords: choroideremia; metabolism; rep1; lipid metabolism ... See more keywords
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13071268
Abstract: Choroideremia is an X-linked recessive condition presenting in males, with progressive degeneration of retinal and choroidal tissues leading to progressive visual loss. Its pathological mechanism is due to alterations in the CHM gene that encodes… read more here.
Keywords: female carriers; negative effect; rab; rep1 ... See more keywords