000087678 001__ 87678
000087678 005__ 20200217131909.0
000087678 0247_ $$2doi$$a10.1038/ejhg.2016.124
000087678 0248_ $$2sideral$$a105124
000087678 037__ $$aART-2017-105124
000087678 041__ $$aeng
000087678 100__ $$0(orcid)0000-0001-5964-6138$$aEmperador, Sonia$$uUniversidad de Zaragoza
000087678 245__ $$aMolecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy
000087678 260__ $$c2017
000087678 5060_ $$aAccess copy available to the general public$$fUnrestricted
000087678 5203_ $$aOxidative phosphorylation dysfunction has been found in many different disorders. This biochemical pathway depends on mitochondrial protein synthesis. Thus, mutations in components of the mitochondrial translation system can be responsible for some of these pathologies. We identified a new homozygous missense mutation in the mitochondrial translation elongation factor Ts gene in a patient suffering from slowly progressive childhood ataxia and hypertrophic cardiomyopathy. Using cell, biochemical and molecular-genetic protocols, we confirm it as the etiologic factor of this phenotype. Moreover, as an important functional confirmation, we rescued the normal molecular phenotype by expression of the wild-type TSFM cDNA in patient''s fibroblasts. Different TSFM mutations can produce the same or very different clinical phenotypes, going from abortions to moderately severe presentations. On the other hand, the same TSFM mutation can also produce same or different phenotypes within the same range of presentations, therefore suggesting the involvement of unknown factors.
000087678 536__ $$9info:eu-repo/grantAgreement/ES/FIS/PI14-00005$$9info:eu-repo/grantAgreement/ES/ISCIII/PI14-00070$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI13-02177
000087678 540__ $$9info:eu-repo/semantics/openAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/
000087678 590__ $$a3.636$$b2017
000087678 591__ $$aGENETICS & HEREDITY$$b54 / 171 = 0.316$$c2017$$dQ2$$eT1
000087678 591__ $$aBIOCHEMISTRY & MOLECULAR BIOLOGY$$b94 / 292 = 0.322$$c2017$$dQ2$$eT1
000087678 592__ $$a1.842$$b2017
000087678 593__ $$aGenetics (clinical)$$c2017$$dQ1
000087678 593__ $$aGenetics$$c2017$$dQ1
000087678 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/acceptedVersion
000087678 700__ $$0(orcid)0000-0002-8585-6371$$aBayona-Bafaluy, M. Pilar.$$uUniversidad de Zaragoza
000087678 700__ $$aFernández-Marmiesse, Ana
000087678 700__ $$aPineda, Mercedes
000087678 700__ $$aFelgueroso, Blanca
000087678 700__ $$0(orcid)0000-0002-3217-1424$$aLópez-Gallardo, Ester$$uUniversidad de Zaragoza
000087678 700__ $$aArtuch, Rafael
000087678 700__ $$aRoca, Iria
000087678 700__ $$0(orcid)0000-0002-0269-7337$$aRuiz-Pesini, Eduardo$$uUniversidad de Zaragoza
000087678 700__ $$aCouce, María Luz
000087678 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya, Julio$$uUniversidad de Zaragoza
000087678 7102_ $$11003$$2443$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Histología
000087678 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000087678 773__ $$g25 (2017), 153-156$$pEur. j. hum. genet.$$tEuropean Journal of Human Genetics$$x1018-4813
000087678 8564_ $$s1297997$$uhttps://zaguan.unizar.es/record/87678/files/texto_completo.pdf$$yPostprint
000087678 8564_ $$s28214$$uhttps://zaguan.unizar.es/record/87678/files/texto_completo.jpg?subformat=icon$$xicon$$yPostprint
000087678 909CO $$ooai:zaguan.unizar.es:87678$$particulos$$pdriver
000087678 951__ $$a2020-02-17-12:30:37
000087678 980__ $$aARTICLE