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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| 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 |