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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Detalles Bibliográficos
Autores principales: Ramachandra Rao, Sriganesh, Fliesler, Steven J., Kotla, Pravallika, Nguyen, Mai N., Pittler, Steven J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7226774/
https://www.ncbi.nlm.nih.gov/pubmed/32272552
http://dx.doi.org/10.3390/cells9040896

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