Lack of Overt Retinal Degeneration in a K42E <i>Dhdds</i> Knock-In Mouse Model of RP59
Dehydrodolichyl diphosphate synthase (DHDDS) is required for protein <i>N</i>-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 gen...
Salvato in:
| Autori principali: | , , , , |
|---|---|
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
MDPI AG
2020-04-01
|
| Serie: | Cells |
| Soggetti: | |
| Accesso online: | https://www.mdpi.com/2073-4409/9/4/896 |
| Tags: |
Nessun Tag, puoi essere il primo ad aggiungerne!!
|