Article
AAV-mediated base editing restores cochlear gap junction in GJB2 dominant-negative mutation-associated syndromic hearing loss model.
JCI insight - 10 Mar 2025
Ukaji Takao, Arai Daisuke, Tsutsumi Harumi, Nakagawa Ryoya, Matsumoto Fumihiko, Ikeda Katsuhisa, Nureki Osamu, Kamiya Kazusaku
Abstract excerpt
Mutations in the gap junction β2 (GJB2) gene, which encodes connexin 26, are the leading cause of genetic deafness. These mutations are characterized by the degeneration and fragmentation of gap junctions and gap junction plaques (GJPs) composed of connexin 26. Dominant-negative mutations of GJB2, such as R75W, cause syndromic hearing loss and palmoplantar keratoderma. We previously reported that the R75W...
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