000130582 001__ 130582
000130582 005__ 20240126184245.0
000130582 0247_ $$2doi$$a10.1016/j.mrrev.2020.108334
000130582 0248_ $$2sideral$$a119869
000130582 037__ $$aART-2020-119869
000130582 041__ $$aeng
000130582 100__ $$0(orcid)0000-0002-8585-6371$$aBayona-Bafaluy, M.P.$$uUniversidad de Zaragoza
000130582 245__ $$aGenetic aspects of the oxidative phosphorylation dysfunction in dilated cardiomyopathy
000130582 260__ $$c2020
000130582 5203_ $$aDilated 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.
000130582 540__ $$9info:eu-repo/semantics/openAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/
000130582 590__ $$a5.657$$b2020
000130582 591__ $$aBIOTECHNOLOGY & APPLIED MICROBIOLOGY$$b26 / 158 = 0.165$$c2020$$dQ1$$eT1
000130582 591__ $$aTOXICOLOGY$$b11 / 93 = 0.118$$c2020$$dQ1$$eT1
000130582 591__ $$aGENETICS & HEREDITY$$b31 / 175 = 0.177$$c2020$$dQ1$$eT1
000130582 592__ $$a2.036$$b2020
000130582 593__ $$aHealth, Toxicology and Mutagenesis$$c2020$$dQ1
000130582 593__ $$aGenetics$$c2020$$dQ1
000130582 655_4 $$ainfo:eu-repo/semantics/review$$vinfo:eu-repo/semantics/publishedVersion
000130582 700__ $$0(orcid)0000-0003-1508-6516$$aIglesias, E.$$uUniversidad de Zaragoza
000130582 700__ $$0(orcid)0000-0002-3217-1424$$aLópez-Gallardo, E.$$uUniversidad de Zaragoza
000130582 700__ $$0(orcid)0000-0001-5964-6138$$aEmperador, S.$$uUniversidad de Zaragoza
000130582 700__ $$0(orcid)0000-0003-2645-3983$$aPacheu-Grau, D.$$uUniversidad de Zaragoza
000130582 700__ $$aLabarta, L.
000130582 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya, J.$$uUniversidad de Zaragoza
000130582 700__ $$0(orcid)0000-0002-0269-7337$$aRuiz-Pesini, E.$$uUniversidad de Zaragoza
000130582 7102_ $$11003$$2443$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Histología
000130582 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000130582 773__ $$g786, 108334 (2020), [13 pp]$$pMutat. res., Rev. mutat. res.$$tMUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH$$x1383-5742
000130582 8564_ $$s1239187$$uhttps://zaguan.unizar.es/record/130582/files/texto_completo.pdf$$yVersión publicada
000130582 8564_ $$s2241114$$uhttps://zaguan.unizar.es/record/130582/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000130582 909CO $$ooai:zaguan.unizar.es:130582$$particulos$$pdriver
000130582 951__ $$a2024-01-26-18:11:41
000130582 980__ $$aARTICLE