130582 20240126184245.0 doi 10.1016/j.mrrev.2020.108334 sideral 119869 ART-2020-119869 eng Bayona-Bafaluy, M.P. Universidad de Zaragoza (orcid)0000-0002-8585-6371 Genetic aspects of the oxidative phosphorylation dysfunction in dilated cardiomyopathy 2020 Dilated cardiomyopathy is a frequent and extremely heterogeneous medical condition. Deficits in the oxidative phosphorylation system have been described in patients suffering from dilated cardiomyopathy. Hence, mutations in proteins related to this biochemical pathway could be etiological factors for some of these patients. Here, we review the clinical phenotypes of patients harboring pathological mutations in genes related to the oxidative phosphorylation system, either encoded in the mitochondrial or in the nuclear genome, presenting with dilated cardiomyopathy. In addition to the clinical heterogeneity of these patients, the large genetic heterogeneity has contributed to an improper allocation of pathogenicity for many candidate mutations. We suggest criteria to avoid incorrect assignment of pathogenicity to newly found mutations and discuss possible therapies targeting the oxidative phosphorylation function. info:eu-repo/semantics/closedAccess All rights reserved http://www.europeana.eu/rights/rr-f/ 5.657 2020 BIOTECHNOLOGY & APPLIED MICROBIOLOGY 26 / 158 = 0.165 2020 Q1 T1 TOXICOLOGY 11 / 93 = 0.118 2020 Q1 T1 GENETICS & HEREDITY 31 / 175 = 0.177 2020 Q1 T1 2.036 2020 Health, Toxicology and Mutagenesis 2020 Q1 Genetics 2020 Q1 info:eu-repo/semantics/review info:eu-repo/semantics/publishedVersion Iglesias, E. Universidad de Zaragoza (orcid)0000-0003-1508-6516 López-Gallardo, E. Universidad de Zaragoza (orcid)0000-0002-3217-1424 Emperador, S. Universidad de Zaragoza (orcid)0000-0001-5964-6138 Pacheu-Grau, D. Universidad de Zaragoza (orcid)0000-0003-2645-3983 Labarta, L. Montoya, J. Universidad de Zaragoza (orcid)0000-0003-1770-6299 Ruiz-Pesini, E. Universidad de Zaragoza (orcid)0000-0002-0269-7337 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. 786, 108334 (2020), [13 pp] Mutat. res., Rev. mutat. res. MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH 1383-5742 1239187 http://zaguan.unizar.es/record/130582/files/texto_completo.pdf Versión publicada 2241114 http://zaguan.unizar.es/record/130582/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:130582 articulos driver 2024-01-26-18:11:41 ARTICLE