Heteroplasmic and homoplasmic m.616T>C in mitochondria tRNA(Phe) promote isolated chronic kidney disease and hyperuricemia

Inherited kidney diseases are the fifth most common cause of end-stage renal disease (ESRD). Mitochondrial dysfunction plays a vital role in the progression of inherited kidney diseases, while mitochondrial-transfer RNA (mt-tRNA) variants and their pathogenic contributions to kidney disease remain l...

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Detalles Bibliográficos
Autores principales: Xu, Chengxian, Tong, Lingxiao, Rao, Jia, Ye, Qing, Chen, Yuxia, Zhang, Yingying, Xu, Jie, Mao, Xiaoting, Meng, Feilong, Shen, Huijun, Lu, Zhihong, Cang, Xiaohui, Fu, Haidong, Wang, Shugang, Gu, Weiyue, Lai, En-Yin, Guan, Min-Xin, Jiang, Pingping, Mao, Jianhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9220945/
https://www.ncbi.nlm.nih.gov/pubmed/35472031
http://dx.doi.org/10.1172/jci.insight.157418

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