Article
Vertebrate Animal Models of RP59: Current Status and Future Prospects.
International journal of molecular sciences - 1 Nov 2022
Fliesler Steven J, Ramachandra Rao Sriganesh, Nguyen Mai N, KhalafAllah Mahmoud Tawfik, Pittler Steven J
Abstract excerpt
Retinitis pigmentosa-59 (RP59) is a rare, recessive form of RP, caused by mutations in the gene encoding DHDDS (dehydrodolichyl diphosphate synthase). DHDDS forms a heterotetrameric complex with Nogo-B receptor (NgBR; gene NUS1) to form a cis-prenyltransferase (CPT) enzyme complex, which is required for the synthesis of dolichol, which in turn is required for protein N-glycosylation as well as other glycosylation...
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