Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention
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- 作者：So Young Kim ; Ah Reum Kim ; Nayoung K.D. Kim ; Chung Lee ; Jin Hee Han ; Min Young Kim ; Eun-Hee Jeon ; Woong-Yang Park ; Rahul Mittal ; Denise Yan ; Xue Zhong Liu and Byung Yoon Choi
- 刊名：The Journal of Gene Medicine
- 出版年：2016
- 出版时间：November-December 2016
- 年：2016
- 卷：18
- 期：11-12
- 页码：353-358
- 全文大小：304K
- ISSN：1521-2254
文摘
The symptoms of phosphoribosyl pyrophosphate synthetase 1 (PRPS1) deficiency diseases have been reported to be alleviated by medication. In the present study, we report biochemical data that favor PRPS1 deficiency-related hearing loss as a potential target for pharmaceutical treatment.