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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...
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| Publicat a: | Cells |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
MDPI
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7226774/ https://ncbi.nlm.nih.gov/pubmed/32272552 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/cells9040896 |
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