000131023 001__ 131023 000131023 005__ 20240202151704.0 000131023 0247_ $$2doi$$a10.1093/hmg/ddu339 000131023 0248_ $$2sideral$$a136731 000131023 037__ $$aART-2014-136731 000131023 041__ $$aeng 000131023 100__ $$0(orcid)0000-0002-3217-1424$$aLópez-Gallardo, Ester$$uUniversidad de Zaragoza 000131023 245__ $$aExpanding the clinical phenotypes of MT-ATP6 mutations 000131023 260__ $$c2014 000131023 5060_ $$aAccess copy available to the general public$$fUnrestricted 000131023 5203_ $$aMitochondrial DNA mutations at MT-ATP6 gene are relatively common in individuals suffering from striatal necrosis syndromes. These patients usually do not show apparent histochemical and/or biochemical signs of oxidative phosphorylation dysfunction. Because of this, MT-ATP6 is not typically analyzed in many other mitochondrial disorders that have not been previously associated to mutations in this gene. To correct this bias, we have performed a screening of the MT-ATP6 gene in a large collection of patients suspected of suffering different mitochondrial DNA (mtDNA) disorders. In three cases, biochemical, molecular-genetics and other analyses in patient tissues and cybrids were also carried out. We found three new pathologic mutations. Two of them in patients showing phenotypes that have not been commonly associated to mutations in the MT-ATP6 gene. These results remark the importance of sequencing the MT-ATP6 gene in patients with striatal necrosis syndromes, but also within other mitochondrial pathologies. This gene should be sequenced at least in all those patients suspected of suffering an mtDNA disorder disclosing normal results for histochemical and biochemical analyses of respiratory chain. 000131023 536__ $$9info:eu-repo/grantAgreement/ES/FIS/FI12/00217$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI10-00662$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI11-01301 000131023 540__ $$9info:eu-repo/semantics/openAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/ 000131023 590__ $$a6.393$$b2014 000131023 591__ $$aGENETICS & HEREDITY$$b17 / 166 = 0.102$$c2014$$dQ1$$eT1 000131023 591__ $$aBIOCHEMISTRY & MOLECULAR BIOLOGY$$b32 / 290 = 0.11$$c2014$$dQ1$$eT1 000131023 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion 000131023 700__ $$0(orcid)0000-0001-5964-6138$$aEmperador, Sonia 000131023 700__ $$aSolano, Abelardo 000131023 700__ $$aLlobet, Laura 000131023 700__ $$aMartín-Navarro, Antonio 000131023 700__ $$0(orcid)0000-0003-2125-9903$$aLópez-Pérez, Manuel José$$uUniversidad de Zaragoza 000131023 700__ $$aBriones, Paz 000131023 700__ $$aPineda, Mercedes 000131023 700__ $$aArtuch, Rafael 000131023 700__ $$aBarraquer, Elena 000131023 700__ $$aJericó, Ivonne 000131023 700__ $$0(orcid)0000-0002-0269-7337$$aRuiz-Pesini, Eduardo$$uUniversidad de Zaragoza 000131023 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya, Julio$$uUniversidad de Zaragoza 000131023 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole. 000131023 773__ $$g23, 23 (2014), 6191-6200$$pHum. mol. genet.$$tHUMAN MOLECULAR GENETICS$$x0964-6906 000131023 8564_ $$s619765$$uhttps://zaguan.unizar.es/record/131023/files/texto_completo.pdf$$yVersión publicada 000131023 8564_ $$s3051989$$uhttps://zaguan.unizar.es/record/131023/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada 000131023 909CO $$ooai:zaguan.unizar.es:131023$$particulos$$pdriver 000131023 951__ $$a2024-02-02-14:54:00 000131023 980__ $$aARTICLE