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Lack of Overt Retinal Degeneration in a K42E Dhdds Knock-In Mouse Model of RP59
Dehydrodolichyl diphosphate synthase (DHDDS) is required for protein N-glycosylation in eukaryotic cells. A K42E point mutation in the DHDDS gene causes an autosomal recessive form of retinitis pigmentosa (RP59), which has been classified as a congenital disease of glycosylation (CDG). We generated...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7226774/ https://www.ncbi.nlm.nih.gov/pubmed/32272552 http://dx.doi.org/10.3390/cells9040896 |