Impaired glutamylation of RPGR(ORF15) underlies the cone-dominated phenotype associated with truncating distal ORF15 variants

Pathogenic variants in the Retinitis pigmentosa GTPase regulator (RPGR) gene lead to a clinically severe form of X-linked retinal dystrophy. However, it remains unclear why some variants cause a predominant rod, while others result in a cone-dominated phenotype. Post-translational glutamylation of t...

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Detalles Bibliográficos
Autores principales: Cehajic-Kapetanovic, Jasmina, Martinez-Fernandez de la Camara, Cristina, Birtel, Johannes, Rehman, Salwah, McClements, Michelle E., Charbel Issa, Peter, Lotery, Andrew J, MacLaren, Robert E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2022
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9897430/
https://www.ncbi.nlm.nih.gov/pubmed/36445968
http://dx.doi.org/10.1073/pnas.2208707119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9897430/
https://www.ncbi.nlm.nih.gov/pubmed/36445968
http://dx.doi.org/10.1073/pnas.2208707119

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