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

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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Autores principales: Saumil Sethna, Wadih M Zein, Sehar Riaz, Arnaud PJ Giese, Julie M Schultz, Todd Duncan, Robert B Hufnagel, Carmen C Brewer, Andrew J Griffith, T Michael Redmond, Saima Riazuddin, Thomas B Friedman, Zubair M Ahmed
Formato: article
Lenguaje:EN
Publicado: eLife Sciences Publications Ltd 2021
Materias:
usher syndrome
exogenous retinoids
retinal degeneration
natural history
PCDH15
Medicine
R
Science
Q
Biology (General)
QH301-705.5
Acceso en línea:https://doaj.org/article/b6069badb6b14498bff5ec71588e5683
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https://doaj.org/article/b6069badb6b14498bff5ec71588e5683

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