Article
Compensatory Interplay Between Clarin-1 and Clarin-2 Deafness-Associated Proteins Governs Phenotypic Variability in Hearing.
Advanced science (Weinheim, Baden-Wurttemberg, Germany) - 1 Apr 2026
Wentling Maureen, Yakhlef Sanchez Aïda, Thelen Nicolas, Senarisoy Müge, Hogg Maria, Condamine Steven, Lelli Andrea, Wysocka Emilia, Patni Pranav, Vitry Sandrine, Yildizhan Kerem Yasin, Le Gal Sébastien, Nouaille Sylvie, Bowl Michael R, Thiry Marc, Dulon Didier, Delmaghani Sedigheh, El-Amraoui Aziz
Abstract excerpt
Usher syndrome type III (USH3) is a genetic disorder characterized by progressive, post-lingual hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa. USH3 is caused by mutations in CLRN1, which encodes clarin-1, a tetraspanin-like protein. Mutations in CLRN2, which encodes the related protein clarin-2, are also implicated in progressive, non-syndromic hearing loss in both humans and...
Topics
- Animals
- Membrane Proteins
- Mice
- Phenotype
- Usher Syndromes
- Mice, Knockout
- Humans
- Disease Models, Animal
- Mutation