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 (...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2020-04-01
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| Series: | Cells |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4409/9/4/896 |