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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Gene Med
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados