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

Yongyi  Yuan; Jianguo  Zhang; Qing Chang; Jin  Zeng; Feng Xin; Jianjun Wang; Qingyan  Zhu; Jing  Wu; Jingqiao Lu; Weiwei Guo; Xukun  Yan; Hui  Jiang; Binfei Zhou; Qi Li; Xue  Gao; Huijun  Yuan; Shiming  Yang; Dongyi  Han; Zixu Mao; Ping  Chen; Xi Lin; Pu  Dai

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Author Notes:

We sincerely thank Yueshuai Song in Chinese PLA General Hospital for technical assistance with figure preparation and graphical artwork. We sincerely thank Yuanyuan Cui in Emory University for her kindly and timely guidance with cell culture and RT-PCR.

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Research Funding:

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:

Science & Technology
Life Sciences & Biomedicine
Cell Biology
MENTAL-RETARDATION

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

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

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Journal Title:

Cell Research

Volume:

Volume 24, Number 11

Publisher:

Inst Biochemistry & Cell Biology | 2014-11-01, Pages 1370-1373

Type of Work:

Article | Final Publisher PDF

Permanent URL:

https://pid.emory.edu/ark:/25593/mr76p

Publisher DOI:

http://doi.org/10.1038/cr.2014.77

Copyright information:

This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported License ( http://creativecommons.org/licenses/by-nc-sa/3.0/), which permits distribution of derivative works, distribution, public display, and publicly performance, making multiple copies, provided the original work is properly cited. This license requires derivative works be licensed under the same terms or compatible terms as the original work, copyright and license notices be kept intact, credit be given to copyright holder and/or author. This license prohibits exercising rights for commercial purposes.

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Keywords:

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

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