Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations

Retinitis pigmentosa (RP) is the most common cause of hereditary blindness, and may occur in isolation as a non-syndromic condition or alongside other features in a syndromic presentation. Biallelic or monoallelic mutations in one of eight genes encoding pre-mRNA splicing factors are associated with...

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Detalles Bibliográficos
Autores principales: Nazlamova, Liliya, Villa Vasquez, Suly Saray, Lord, Jenny, Karthik, Varshini, Cheung, Man-Kim, Lakowski, Jörn, Wheway, Gabrielle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9513239/
https://www.ncbi.nlm.nih.gov/pubmed/36176300
http://dx.doi.org/10.3389/fgene.2022.1009430

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9513239/
https://www.ncbi.nlm.nih.gov/pubmed/36176300
http://dx.doi.org/10.3389/fgene.2022.1009430

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