A Dhdds K42E knock-in RP59 mouse model shows inner retina pathology and defective synaptic transmission

Retinitis pigmentosa (RP) defines a group of hereditary progressive rod-cone degenerations that exhibit a common phenotype caused by variants in over 70 genes. While most variants in the dehydrodolichyl diphosphate synthase (DHDDS) gene result in syndromic abnormalities, some variants cause non-synd...

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Detalles Bibliográficos
Autores principales: Nguyen, Mai N., Chakraborty, Dibyendu, Rao, Sriganesh Ramachandra, Onysk, Agnieszka, Radkiewicz, Mariusz, Surmacz, Liliana, Swiezewska, Ewa, Soubeyrand, Eric, Akhtar, Tariq A., Kraft, Timothy W., Sherry, David M., Fliesler, Steven J., Pittler, Steven J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10345138/
https://www.ncbi.nlm.nih.gov/pubmed/37443173
http://dx.doi.org/10.1038/s41419-023-05936-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10345138/
https://www.ncbi.nlm.nih.gov/pubmed/37443173
http://dx.doi.org/10.1038/s41419-023-05936-4

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