REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia

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 protein trafficking, the putative cause for photorecep...

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Detalles Bibliográficos
Autores principales: Cunha, Dulce Lima, Richardson, Rose, Tracey-White, Dhani, Abbouda, Alessandro, Mitsios, Andreas, Horneffer-van der Sluis, Verena, Takis, Panteleimon, Owen, Nicholas, Skinner, Jane, Welch, Ailsa A., Moosajee, Mariya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8262314/
https://www.ncbi.nlm.nih.gov/pubmed/33755601
http://dx.doi.org/10.1172/jci.insight.146934

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8262314/
https://www.ncbi.nlm.nih.gov/pubmed/33755601
http://dx.doi.org/10.1172/jci.insight.146934

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