Single Administration of AAV-mAtp6v1b2 Gene Therapy Rescues Hearing and Vestibular Disorders Caused by Atp6v1b2-Induced Lysosomal Dysfunction in Hair Cells.

• Tác giả: Yijin Chen, Pu Dai, Guojie Dong, Haifeng Feng, Xue Gao, Xiaoge Li, Ying Ma, Huiyi Nie, Shiwei Qiu, Guangqin Wang, Gege Wei, Wei Xiong, Jinyuan Yang, Yongyi Yuan, Weihao Zhao, Lu Zheng
• Ngôn ngữ: eng
• Thông tin xuất bản: Germany : Advanced science (Weinheim, Baden-Wurttemberg, Germany) , 2025
• Bộ sưu tập: NCBI
• ID: 695077

Tóm tắt

Haploinsufficiency of the ATP6V1B2, a subunit of V-ATPases, underlies genetic disorders including Dominant deafness-onychodystrophy (DDOD), deafness, onychodystrophy, osteodystrophy, mental retardation and seizures (DOORS), and Zimmermann-Laband syndromes, all characterized by congenital hearing loss and onychodystrophy. Effective therapies for ATP6V1B2-associated hearing loss remain elusive. The study generates a hair cell-specific knockout mouse (Atp6v1b2