Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome

Usher syndrome type I (USH1) is characterized by deafness, vestibular areflexia, and progressive retinal degeneration. The protein-truncating p.Arg245* founder variant of PCDH15 (USH1F) has an ~2% carrier frequency amongst Ashkenazi Jews accounts for ~60% of their USH1 cases. Here, longitudinal phen...

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Detalles Bibliográficos
Autores principales: Sethna, Saumil, Zein, Wadih M, Riaz, Sehar, Giese, Arnaud PJ, Schultz, Julie M, Duncan, Todd, Hufnagel, Robert B, Brewer, Carmen C, Griffith, Andrew J, Redmond, T Michael, Riazuddin, Saima, Friedman, Thomas B, Ahmed, Zubair M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2021
Materias:
Cell Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8577840/
https://www.ncbi.nlm.nih.gov/pubmed/34751129
http://dx.doi.org/10.7554/eLife.67361

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8577840/
https://www.ncbi.nlm.nih.gov/pubmed/34751129
http://dx.doi.org/10.7554/eLife.67361

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