Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNA<sup>Ser(UCN)</sup> 7511A>G mutation.

Fan, Wenlu; Zheng, Jing; Kong, Wanzhong; Cui, Limei; Aishanjiang, Maerhaba; Yi, Qiuzi; Wang, Min; Cang, Xiaohui; Tang, Xiaowen; Chen, Ye; Mo, Jun Qin; Sondheimer, Neal; Ge, Wanzhong; Guan, Min-Xin

Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNA^Ser(UCN) 7511A>G mutation.

Fan, Wenlu; Zheng, Jing; Kong, Wanzhong; Cui, Limei; Aishanjiang, Maerhaba; Yi, Qiuzi; Wang, Min; Cang, Xiaohui; Tang, Xiaowen; Chen, Ye; Mo, Jun Qin; Sondheimer, Neal; Ge, Wanzhong; Guan, Min-Xin.

Afiliação

Fan W; Division of Medical Genetics and Genomics, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Zheng J; Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Kong W; Attardi Institute of Biomedicine, School of Life Sciences and Laboratory Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325600, China.
Cui L; Division of Medical Genetics and Genomics, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Aishanjiang M; Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Yi Q; Attardi Institute of Biomedicine, School of Life Sciences and Laboratory Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325600, China.
Wang M; Division of Medical Genetics and Genomics, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Cang X; Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Tang X; Division of Medical Genetics and Genomics, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Chen Y; Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Mo JQ; Division of Medical Genetics and Genomics, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Sondheimer N; Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Ge W; Attardi Institute of Biomedicine, School of Life Sciences and Laboratory Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325600, China.
Guan MX; Division of Medical Genetics and Genomics, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.

J Biol Chem ; 294(50): 19292-19305, 2019 12 13.

Article em En | MEDLINE | ID: mdl-31685661

Assuntos

Mitocôndrias/enzimologia; Mutação; RNA de Transferência de Serina/genética; Tirosina-tRNA Ligase/genética; Povo Asiático; Células Cultivadas; DNA Mitocondrial/genética; DNA Mitocondrial/metabolismo; Feminino; Humanos; Masculino; Linhagem; Fenótipo; Tirosina-tRNA Ligase/metabolismo

Palavras-chave

RNA metabolism; genetic disorder; hearing; hearing loss; maternal inheritance; maternally transmitted deafness; mitochondrial DNA (mtDNA); mitochondrial disease; mitochondrial metabolism; mitochondrial respiratory chain complex; mitochondrial tRNA; mitochondrial translation; mutation; oxidative stress; pathogenesis; pathophysiology; reactive oxygen species (ROS); synergy; tRNASer(UCN); transfer RNA (tRNA); translation; tyrosyl-tRNA synthetase 2 (YARS2)

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tirosina-tRNA Ligase / RNA de Transferência de Serina / Mitocôndrias / Mutação Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: J Biol Chem Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China País de publicação: Estados Unidos

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google