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Article

Deafness-Associated ADGRV1 Mutation Impairs USH2A Stability through Improper Phosphorylation of WHRN and WDSUB1 Recruitment.

Advanced science (Weinheim, Baden-Wurttemberg, Germany) - 1 Jun 2023

Guan Ying, Du Hai-Bo, Yang Zhao, Wang Yu-Zhu, Ren Rui, Liu Wen-Wen, Zhang Chao, Zhang Jia-Hai, An Wen-Tao, Li Na-Na, Zeng Xiao-Xue, Li Jie, Sun Yi-Xiao, Wang Yan-Fei, Yang Fan, Yang Jun, Xiong Wei, Yu Xiao, Chai Ren-Jie, Tu Xiao-Ming, Sun Jin-Peng, Xu Zhi-Gang

Abstract excerpt

The ankle-link complex (ALC) consists of USH2A, WHRN, PDZD7, and ADGRV1 and plays an important role in hair cell development. At present, its architectural organization and signaling role remain unclear. By establishing Adgrv1 Y6236fsX1 mutant mice as a model of the deafness-associated human Y6244fsX1 mutation, the authors show here that the Y6236fsX1 mutation disrupts the interaction between adhesion G...

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Identifiers

PMID: 37066759
DOI: 10.1002/advs.202205993
PMCID: PMC10238197

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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