Article
AAV-mediated exon skipping therapy for Usher syndrome, type 2A.
Molecular therapy : the journal of the American Society of Gene Therapy - 7 Jan 2026
Mauriac Stephanie A, Lee Jiyoon, Zhang Jingyuan, Jin Jiahe, Nist-Lund Carl, Martin Camille T, Von Muhlenbrock Cristobal R, O'Malley Sydney, Chaves Mary G, Madison Margot A, Foster Kate, Long Shinong, Jacobs Chris, Kumar Sripriya Ravindra, Ramirez Silvia, Ichida Justin, Koehler Karl R, Holt Jeffrey R, Géléoc Gwenaëlle S G
Abstract excerpt
Usher syndrome can cause loss of vision, hearing, and balance. There are four clinical subtypes, USH1-4, which are associated with mutations in genes important for structure, function, and survival of photoreceptor cells in the retina and sensory hair cells in the inner ear. Genetic mutations in the USH2A gene, which encodes usherin protein, are the most common cause of Usher syndrome worldwide, with c.2299delG...
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