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

BACKGROUND: The symptoms of phosphoribosyl pyrophosphate synthetase 1 (PRPS1) deficiency diseases have been reported to be alleviated by medication. Herein, we report biochemical data to favor PRPS1 deficiency-related hearing loss as a potential target for pharmaceutical treatment. METHODS: We recru...

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Vydáno v:J Gene Med
Hlavní autoři: Kim, So Young, Kim, Ah Reum, Kim, Nayoung K. D., Lee, Chung, Han, Jin Hee, Kim, Min Young, Jeon, Eun-Hee, Park, Woong-Yang, Mittal, Rahul, Yan, Denise, Liu, Xue Zhong, Choi, Byung Yoon
Médium: Artigo
Jazyk:Inglês
Vydáno: 2016
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5281059/
https://ncbi.nlm.nih.gov/pubmed/27886419
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jgm.2935
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