000119691 001__ 119691
000119691 005__ 20240319081011.0
000119691 0247_ $$2doi$$a10.1111/cge.14189
000119691 0248_ $$2sideral$$a129794
000119691 037__ $$aART-2022-129794
000119691 041__ $$aeng
000119691 100__ $$aVela-Sebastián, Ana$$uUniversidad de Zaragoza
000119691 245__ $$aToxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation
000119691 260__ $$c2022
000119691 5060_ $$aAccess copy available to the general public$$fUnrestricted
000119691 5203_ $$aLeber hereditary optic neuropathy is a mitochondrial disease mainly due to pathologic mutations in mitochondrial genes related to the respiratory complex I of the oxidative phosphorylation system. Genetic, physiological, and environmental factors modulate the penetrance of these mutations. We report two patients suffering from this disease and harboring a m.15950G > A mutation in the mitochondrial DNA-encoded gene for the threonine transfer RNA. We also provide evidences supporting the pathogenicity of this mutation.
000119691 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B33-20R$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00021$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI21-00229$$9info:eu-repo/grantAgreement/ES/MICINN/PID2020-116970GA-I00$$9info:eu-repo/grantAgreement/ES/MICINN/RYC2020-029544-I
000119691 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc-nd$$uhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/
000119691 590__ $$a3.5$$b2022
000119691 592__ $$a1.241$$b2022
000119691 591__ $$aGENETICS & HEREDITY$$b66 / 171 = 0.386$$c2022$$dQ2$$eT2
000119691 593__ $$aGenetics (clinical)$$c2022$$dQ1
000119691 593__ $$aGenetics$$c2022$$dQ1
000119691 594__ $$a7.4$$b2022
000119691 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000119691 700__ $$0(orcid)0000-0002-3217-1424$$aLópez-Gallardo, Ester$$uUniversidad de Zaragoza
000119691 700__ $$0(orcid)0000-0001-5964-6138$$aEmperador, Sonia$$uUniversidad de Zaragoza
000119691 700__ $$0(orcid)0000-0003-3524-5158$$aHernández-Ainsa, Carmen
000119691 700__ $$0(orcid)0000-0003-2645-3983$$aPacheu-Grau, David$$uUniversidad de Zaragoza
000119691 700__ $$aBlanco, Ignacio
000119691 700__ $$aRos, Andrea
000119691 700__ $$aPascual-Benito, Ester
000119691 700__ $$aRabaneda-Lombarte, Neus
000119691 700__ $$aPresas-Rodríguez, Silvia
000119691 700__ $$aGarcía-Robles, Pilar
000119691 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya, Julio$$uUniversidad de Zaragoza
000119691 700__ $$0(orcid)0000-0002-0269-7337$$aRuiz-Pesini, Eduardo$$uUniversidad de Zaragoza
000119691 7102_ $$11003$$2443$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Histología
000119691 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000119691 773__ $$g102, 4 (2022), 339-344$$pClin. genet.$$tClinical genetics$$x0009-9163
000119691 8564_ $$s4378611$$uhttps://zaguan.unizar.es/record/119691/files/texto_completo.pdf$$yVersión publicada
000119691 8564_ $$s1901500$$uhttps://zaguan.unizar.es/record/119691/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000119691 909CO $$ooai:zaguan.unizar.es:119691$$particulos$$pdriver
000119691 951__ $$a2024-03-18-15:08:34
000119691 980__ $$aARTICLE