A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1490
Abstract: Due to the limited availability of mRNA analysis data, the number of exonic variants resulting in splicing impairment is underestimated although aberrant splicing correction is a promising therapeutic option to treat monogenic diseases, including choroideremia… read more here.
Keywords: splicing alteration; choroideremia; alteration; chm gene ... See more keywords
Use of induced pluripotent stem cell models to probe the pathogenesis of Choroideremia and to develop a potential treatment.
Sign Up to like & getrecommendations! Published in 2018 at "Stem cell research"
DOI: 10.1016/j.scr.2018.01.009
Abstract: Choroideremia (CHM) is a rare monogenic, X-linked recessive inherited retinal degeneration resulting from mutations in the Rab Escort Protein-1 (REP1) encoding CHM gene. The primary retinal cell type leading to CHM is unknown. In this… read more here.
Keywords: choroideremia; stem cell; pluripotent stem; induced pluripotent ... See more keywords
Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?
Sign Up to like & getrecommendations! Published in 2021 at "Expert opinion on orphan drugs"
DOI: 10.1080/21678707.2021.1882300
Abstract: ABSTRACT Introduction: Choroideremia is an X-linked inherited retinal degeneration resulting from mutations in the CHM gene, encoding Rab escort protein-1 (REP1), a protein regulating intracellular vesicular transport. Loss-of-function mutations in CHM lead to progressive loss… read more here.
Keywords: choroideremia; subretinal aav; option choroideremia; gene ... See more keywords
Atypical choroideremia presenting with early‐onset macular atrophy
Sign Up to like & getrecommendations! Published in 2019 at "Acta Ophthalmologica"
DOI: 10.1111/aos.14025
Abstract: Choroideremia is an X‐linked recessive retinal degeneration predominantly affecting hemizygous males. It is caused by mutations in the CHM gene that encodes the Rab escort protein‐1. Characteristic features include early nyctalopia followed by progressive constriction… read more here.
Keywords: atypical choroideremia; presenting early; choroideremia; early onset ... See more keywords
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