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

查看全文 作　　者：Yongyi [1,2]Yuan;Jianguo [3,4]Zhang;Qing [2]Chang;Jin [5]Zeng;Feng [1]Xin;Jianjun [2]Wang;Qingyan [3]Zhu;Jing [6]Wu;Jingqiao [2]Lu;Weiwei [1]Guo;Xukun [1]Yan;Hui [3]Jiang;Binfei [2]Zhou;Qi [2]Li;Xue [1]Gao;Huijun [1]Yuan;Shiming [1]Yang;Dongyi [1]Han;Zixu [5,7]Mao;Ping [8]Chen;Xi [2]Lin;Pu [1,9]Dai

机构地区：[1]Department of Otolaryngology, Chinese PLA General Hospital Beijing 100853, China;[2]Department of Otolaryngology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA;[3]BGI-Shenzhen, Shenzhen, Guangdong 518083, China;[4]T-Life Research Center, Fudan University, Shanghai 200433, China;[5]Department of Pharmacology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA;[6]BGI-Tianjin, Tianjin 200000, China;[7]Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA;[8]Department of Cell biology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA;[9]Department of Otolaryngology, Hainan Branch of PLA General Hospital Sanya, Hainan 572000, China

出　　处：《Cell Research》索引2014年第24卷第11期,共4页

基　　金：Acknowledgments 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. 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) 关键词：综合征耳聋突变显性溶酶体骨营养不良酸化损害

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

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