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The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1
Usher syndrome (USH) is the leading cause of combined deafness-blindness with type 2 A (USH2A) being the most common form. Knockout models of USH proteins, like the Ush2a(-/-) model that develops a late-onset retinal phenotype, failed to mimic the retinal phenotype observed in patients. Since patien...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9944904/ https://www.ncbi.nlm.nih.gov/pubmed/36810733 http://dx.doi.org/10.1038/s41467-023-36431-1 |