[HTML][HTML] A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system
ME Illing, RS Rajan, NF Bence, RR Kopito - Journal of Biological Chemistry, 2002 - ASBMB
The inherited retinal degenerations are typified by retinitis pigmentosa (RP), a
heterogeneous group of inherited disorders that causes the destruction of photoreceptor
cells, the retinal pigmented epithelium, and choroid. This group of blinding conditions affects
over 1.5 million persons worldwide. Approximately 30–40% of human autosomal dominant
(AD) RP is caused by dominantly inherited missense mutations in the rhodopsin gene. Here
we show that P23H, the most frequent RP mutation in American patients, renders rhodopsin …
heterogeneous group of inherited disorders that causes the destruction of photoreceptor
cells, the retinal pigmented epithelium, and choroid. This group of blinding conditions affects
over 1.5 million persons worldwide. Approximately 30–40% of human autosomal dominant
(AD) RP is caused by dominantly inherited missense mutations in the rhodopsin gene. Here
we show that P23H, the most frequent RP mutation in American patients, renders rhodopsin …