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...

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Detalles Bibliográficos
Autores principales: Tebbe, Lars, Mwoyosvi, Maggie L., Crane, Ryan, Makia, Mustafa S., Kakakhel, Mashal, Cosgrove, Dominic, Al-Ubaidi, Muayyad R., Naash, Muna I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
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

Internet

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

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