119691 20240319081011.0 doi 10.1111/cge.14189 sideral 129794 ART-2022-129794 eng Vela-Sebastián, Ana Universidad de Zaragoza Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation 2022 Access copy available to the general public Unrestricted Leber hereditary optic neuropathy is a mitochondrial disease mainly due to pathologic mutations in mitochondrial genes related to the respiratory complex I of the oxidative phosphorylation system. Genetic, physiological, and environmental factors modulate the penetrance of these mutations. We report two patients suffering from this disease and harboring a m.15950G > A mutation in the mitochondrial DNA-encoded gene for the threonine transfer RNA. We also provide evidences supporting the pathogenicity of this mutation. info:eu-repo/grantAgreement/ES/DGA/B33-20R info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00021 info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI21-00229 info:eu-repo/grantAgreement/ES/MICINN/PID2020-116970GA-I00 info:eu-repo/grantAgreement/ES/MICINN/RYC2020-029544-I info:eu-repo/semantics/openAccess by-nc-nd http://creativecommons.org/licenses/by-nc-nd/3.0/es/ 3.5 2022 GENETICS & HEREDITY 66 / 171 = 0.386 2022 Q2 T2 1.241 2022 Genetics (clinical) 2022 Q1 Genetics 2022 Q1 7.4 2022 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion López-Gallardo, Ester Universidad de Zaragoza (orcid)0000-0002-3217-1424 Emperador, Sonia Universidad de Zaragoza (orcid)0000-0001-5964-6138 Hernández-Ainsa, Carmen (orcid)0000-0003-3524-5158 Pacheu-Grau, David Universidad de Zaragoza (orcid)0000-0003-2645-3983 Blanco, Ignacio Ros, Andrea Pascual-Benito, Ester Rabaneda-Lombarte, Neus Presas-Rodríguez, Silvia García-Robles, Pilar Montoya, Julio Universidad de Zaragoza (orcid)0000-0003-1770-6299 Ruiz-Pesini, Eduardo Universidad de Zaragoza (orcid)0000-0002-0269-7337 1003 443 Universidad de Zaragoza Dpto. Anatom.Histolog.Humanas Area Histología 1002 060 Universidad de Zaragoza Dpto. Bioq.Biolog.Mol. Celular Área Bioquímica y Biolog.Mole. 102, 4 (2022), 339-344 Clin. genet. Clinical genetics 0009-9163 4378611 http://zaguan.unizar.es/record/119691/files/texto_completo.pdf Versión publicada 1901500 http://zaguan.unizar.es/record/119691/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:119691 articulos driver 2024-03-18-15:08:34 ARTICLE