87678 20200217131909.0 doi 10.1038/ejhg.2016.124 sideral 105124 ART-2017-105124 eng (orcid)0000-0001-5964-6138 Emperador, Sonia Universidad de Zaragoza Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy 2017 Access copy available to the general public Unrestricted Oxidative 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. info:eu-repo/grantAgreement/ES/FIS/PI14-00005 info:eu-repo/grantAgreement/ES/ISCIII/PI14-00070 info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI13-02177 info:eu-repo/semantics/openAccess All rights reserved http://www.europeana.eu/rights/rr-f/ 3.636 2017 GENETICS & HEREDITY 54 / 171 = 0.316 2017 Q2 T1 BIOCHEMISTRY & MOLECULAR BIOLOGY 94 / 292 = 0.322 2017 Q2 T1 1.842 2017 Genetics (clinical) 2017 Q1 Genetics 2017 Q1 info:eu-repo/semantics/article info:eu-repo/semantics/acceptedVersion (orcid)0000-0002-8585-6371 Bayona-Bafaluy, M. Pilar. Universidad de Zaragoza Fernández-Marmiesse, Ana Pineda, Mercedes Felgueroso, Blanca (orcid)0000-0002-3217-1424 López-Gallardo, Ester Universidad de Zaragoza Artuch, Rafael Roca, Iria (orcid)0000-0002-0269-7337 Ruiz-Pesini, Eduardo Universidad de Zaragoza Couce, María Luz (orcid)0000-0003-1770-6299 Montoya, Julio Universidad de Zaragoza 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. 25 (2017), 153-156 Eur. j. hum. genet. European Journal of Human Genetics 1018-4813 1297997 http://zaguan.unizar.es/record/87678/files/texto_completo.pdf Postprint 28214 http://zaguan.unizar.es/record/87678/files/texto_completo.jpg?subformat=icon icon Postprint oai:zaguan.unizar.es:87678 articulos driver 2020-02-17-12:30:37 ARTICLE