Leber's hereditary optic neuropathy-associated ND6 14484T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy.

Liang, Min; Ji, Yanchun; Zhang, Liyao; Wang, Xuan; Hu, Cuifang; Zhang, Juanjuan; Zhu, Yiwei; Mo, Jun Q; Guan, Min-Xin

Liang, Min; Ji, Yanchun; Zhang, Liyao; Wang, Xuan; Hu, Cuifang; Zhang, Juanjuan; Zhu, Yiwei; Mo, Jun Q; Guan, Min-Xin.

Afiliación

Liang M; Department of Medical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325000, China.
Ji Y; Attardi Institute of Mitochondrial Biomedicine, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China.
Zhang L; Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Wang X; Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Hu C; Division of Medical Genetics and Genomics, The Children's Hospital, Zhejiang University School of Medicine and National Clinic Research Center for Child Health, Hangzhou, Zhejiang 310058, China.
Zhang J; Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
Zhu Y; Attardi Institute of Mitochondrial Biomedicine, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China.
Mo JQ; Attardi Institute of Mitochondrial Biomedicine, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China.
Guan MX; Attardi Institute of Mitochondrial Biomedicine, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China.

Hum Mol Genet ; 31(19): 3299-3312, 2022 09 29.

Article en En | MEDLINE | ID: mdl-35567411

Asunto(s)

Atrofia Óptica Hereditaria de Leber; Adenosina Trifosfato; Anexina A5/genética; Apoptosis/genética; Caspasas; Citocromos c; ADN Mitocondrial/genética; Complejo I de Transporte de Electrón/genética; Homeostasis/genética; Humanos; Mitofagia/genética; Mutación; NADH Deshidrogenasa; Atrofia Óptica Hereditaria de Leber/genética; Atrofia Óptica Hereditaria de Leber/patología; Proteínas Quinasas/genética; ARN; ARN Mensajero; ARN Mitocondrial; Proteínas de Unión al ARN; Especies Reactivas de Oxígeno; Ubiquitina-Proteína Ligasas/genética; Proteína X Asociada a bcl-2/genética

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Atrofia Óptica Hereditaria de Leber Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google