Ontology highlight
ABSTRACT:
SUBMITTER: Sancho-Pelluz J
PROVIDER: S-EPMC7144803 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
Cellular and molecular life sciences : CMLS 20190411 18
D190N, a missense mutation in rhodopsin, causes photoreceptor degeneration in patients with autosomal dominant retinitis pigmentosa (adRP). Two competing hypotheses have been developed to explain why D190N rod photoreceptors degenerate: (a) defective rhodopsin trafficking prevents proteins from correctly exiting the endoplasmic reticulum, leading to their accumulation, with deleterious effects or (b) elevated mutant rhodopsin expression and unabated signaling causes excitotoxicity. A knock-in D1 ...[more]