Cargando…
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...
| Autores principales: | , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
American Society for Clinical Investigation
2021
|
| Materias: | |
| 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 |