NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough

Alport syndrome, a disease of kidney, ear, and eye, is caused by pathogenic variants in the COL4A3, COL4A4, or COL4A5 genes encoding collagen α3α4α5(IV) of basement membranes. Collagen IV chains that are truncated due to nonsense variants/premature termination codons (PTCs) cannot assemble into hete...

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Detalles Bibliográficos
Autores principales: Omachi, Kohei, Kai, Hirofumi, Roberge, Michel, Miner, Jeffrey H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8866893/
https://www.ncbi.nlm.nih.gov/pubmed/35243249
http://dx.doi.org/10.1016/j.isci.2022.103891

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8866893/
https://www.ncbi.nlm.nih.gov/pubmed/35243249
http://dx.doi.org/10.1016/j.isci.2022.103891

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