De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome

• Type of Material: Article
• Authors: Yongyi Yuan, Emory University; Jianguo Zhang, BGI-Shenzhen; Qing Chang, Emory University; Jin Zeng, Emory University; Feng Xin, Chinese PLA General Hospital; Jianjun Wang, Emory University; Qingyan Zhu, BGI-Shenzhen; Jing Wu, Emory University; Jingqiao Lu, Emory University; Weiwei Guo, Chinese PLA General Hospital; Xukun Yan, Chinese PLA General Hospital; Hui Jiang, BGI-Shenzhen; Binfei Zhou, Emory University; Qi Li, Emory University; Xue Gao, Chinese PLA General Hospital; Huijun Yuan, Chinese PLA General Hospital; Shiming Yang, Chinese PLA General Hospital; Dongyi Han, Chinese PLA General Hospital; Zixu Mao, Emory University; Ping Chen, Emory University; Xi Lin, Emory University; Pu Dai, Chinese PLA General Hospital
• Language: English
• Date: 2014-11-01
• Publisher: Inst Biochemistry & Cell Biology
• Publication Version: Final Published Version
• Copyright Statement: © 2014 Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences
• License: Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported
• Final Published Version (URL): http://dx.doi.org/10.1038/cr.2014.77
• Title of Journal or Parent Work: Cell Research
• Volume: 24
• Issue: 11
• Start Page: 1370
• End Page: 1373
• Grant/Funding Information: The work was supported by grants from the Ministry of Science and Technology of China (2012BAI09B02 to PD), the National Natural Science Foundation of China (81230020 to PD and 81371098 to YYY), the US National Institute on Deafness and other Communication Disorders (NIDCD R01DC010204, RO1 DC006483 and 4R33DC010476 to XL), the Beijing Natural Science Foundation (7132177 to YYY), and the Beijing Nova program (2009B34 to YYY)
• Keywords: Cell Biology; MENTAL-RETARDATION; Life Sciences & Biomedicine; Science & Technology
• Research Categories: Biology, Cell; Health Sciences, Pharmacology; Health Sciences, General