Syndromic Deafness Gene ATP6V1B2 Controls Degeneration of Spiral Ganglion Neurons Through Modulating Proton Flux

ATP6V1B2 encodes the V1B2 subunit in V-ATPase, a proton pump responsible for the acidification of lysosomes. Mutations in this gene cause DDOD syndrome, DOORS syndrome, and Zimmermann–Laband syndrome, which share overlapping feature of congenital sensorineural deafness, onychodystrophy, and differen...

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Detalles Bibliográficos
Autores principales: Qiu, Shiwei, Zhao, Weihao, Gao, Xue, Li, Dapeng, Wang, Weiqian, Gao, Bo, Han, Weiju, Yang, Shiming, Dai, Pu, Cao, Peng, Yuan, Yongyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8568048/
https://www.ncbi.nlm.nih.gov/pubmed/34746137
http://dx.doi.org/10.3389/fcell.2021.742714

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