000130580 001__ 130580
000130580 005__ 20240126184245.0
000130580 0247_ $$2doi$$a10.3390/genes11091007
000130580 0248_ $$2sideral$$a119542
000130580 037__ $$aART-2020-119542
000130580 041__ $$aeng
000130580 100__ $$aHabbane, M.
000130580 245__ $$aLeigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA
000130580 260__ $$c2020
000130580 5060_ $$aAccess copy available to the general public$$fUnrestricted
000130580 5203_ $$aBACKGROUND: Leigh syndrome (LS) is a serious genetic disease that can be caused by mutations in dozens of different genes. METHODS: Clinical study of a deafness pedigree in which some members developed LS. Cellular, biochemical and molecular genetic analyses of patients'' tissues and cybrid cell lines were performed. RESULTS: mitochondrial DNA (mtDNA) m.1555A>G/MT-RNR1 and m.9541T>C/MT-CO3 mutations were found. The first one is a well-known pathologic mutation. However, the second one does not appear to contribute to the high hearing loss penetrance and LS phenotype observed in this family. CONCLUSION: The m.1555A>G pathological mutation, accompanied with an unknown nuclear DNA (nDNA) factor, could be the cause of the phenotypic manifestations in this pedigree.
000130580 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B33-17R$$9info:eu-repo/grantAgreement/ES/DGA-FEDER/Construyendo Europa desde Aragón$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00021$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00166$$9info:eu-repo/grantAgreement/ES/ISCIII-FIS/PI17-00109
000130580 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000130580 590__ $$a4.096$$b2020
000130580 591__ $$aGENETICS & HEREDITY$$b65 / 175 = 0.371$$c2020$$dQ2$$eT2
000130580 592__ $$a1.337$$b2020
000130580 593__ $$aGenetics (clinical)$$c2020$$dQ2
000130580 593__ $$aGenetics$$c2020$$dQ2
000130580 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000130580 700__ $$0(orcid)0000-0002-4379-1100$$aLlobet, L.$$uUniversidad de Zaragoza
000130580 700__ $$0(orcid)0000-0002-8585-6371$$aBayona-Bafaluy, M.P.$$uUniversidad de Zaragoza
000130580 700__ $$aBárcena, J.E.
000130580 700__ $$aCeberio, L.
000130580 700__ $$aGómez-Díaz, C.
000130580 700__ $$aGort, L.
000130580 700__ $$aArtuch, R.
000130580 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya, J.$$uUniversidad de Zaragoza
000130580 700__ $$0(orcid)0000-0002-0269-7337$$aRuiz-Pesini, E.$$uUniversidad de Zaragoza
000130580 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000130580 7102_ $$11002$$2050$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Biología Celular
000130580 773__ $$g11, 9 (2020), 11091007 [9 pp]$$pGenes (Basel)$$tGenes$$x2073-4425
000130580 8564_ $$s1993589$$uhttps://zaguan.unizar.es/record/130580/files/texto_completo.pdf$$yVersión publicada
000130580 8564_ $$s2077675$$uhttps://zaguan.unizar.es/record/130580/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000130580 909CO $$ooai:zaguan.unizar.es:130580$$particulos$$pdriver
000130580 951__ $$a2024-01-26-18:11:29
000130580 980__ $$aARTICLE