000086283 001__ 86283
000086283 005__ 20200716101435.0
000086283 0247_ $$2doi$$a10.1016/j.gene.2018.11.085
000086283 0248_ $$2sideral$$a109694
000086283 037__ $$aART-2019-109694
000086283 041__ $$aeng
000086283 100__ $$aSaldaña-Martínez, A.
000086283 245__ $$aWhole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants
000086283 260__ $$c2019
000086283 5060_ $$aAccess copy available to the general public$$fUnrestricted
000086283 5203_ $$aMitochondria both produce the energy of the cell as ATP via respiration and regulate cellular metabolism. Accordingly, any deletion or mutation in the mitochondrial DNA (mtDNA) may result in a disease. One of these diseases is Kearns Sayre syndrome (KSS), described for the first time in 1958, where different large-scale deletions of different sizes and at different positions have been reported in the mitochondrial genome of patients with similar clinical symptoms. In this study, sequences of the mitochondrial genome of three patients with clinic features of KSS were analyzed. Our results revealed the position, heteroplasmy percentage, size of deletions, and their haplogroups. Two patients contained deletions reported previously and one patient showed a new deletion not reported previously. These results display for the first time a systematic analysis of mtDNA variants in the whole mtDNA genome of patients with KSS to help to understand their association with the disease.
000086283 536__ $$9info:eu-repo/grantAgreement/ES/DGA/FEDER$$9info:eu-repo/grantAgreement/ES/ISCIII/PI17-00021$$9info:eu-repo/grantAgreement/ES/ISCIII/PI17-00166
000086283 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc-nd$$uhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/
000086283 590__ $$a2.984$$b2019
000086283 592__ $$a0.898$$b2019
000086283 591__ $$aGENETICS & HEREDITY$$b83 / 177 = 0.469$$c2019$$dQ2$$eT2
000086283 593__ $$aMedicine (miscellaneous)$$c2019$$dQ1
000086283 593__ $$aGenetics$$c2019$$dQ2
000086283 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/acceptedVersion
000086283 700__ $$aMuñoz, M.D.L.
000086283 700__ $$aPérez-Ramírez, G.
000086283 700__ $$aMontiel-Sosa, J.F.
000086283 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya, J.$$uUniversidad de Zaragoza
000086283 700__ $$0(orcid)0000-0001-5964-6138$$aEmperador, S.$$uUniversidad de Zaragoza
000086283 700__ $$0(orcid)0000-0002-0269-7337$$aRuiz-Pesini, E.$$uUniversidad de Zaragoza
000086283 700__ $$aCuevas-Covarrubias, S.
000086283 700__ $$aLópez-Valdez, J.
000086283 700__ $$aRamírez, R.G.
000086283 7102_ $$11003$$2443$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Histología
000086283 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000086283 773__ $$g688 (2019), 171-181$$pGene$$tGENE$$x0378-1119
000086283 8564_ $$s633358$$uhttps://zaguan.unizar.es/record/86283/files/texto_completo.pdf$$yPostprint
000086283 8564_ $$s255732$$uhttps://zaguan.unizar.es/record/86283/files/texto_completo.jpg?subformat=icon$$xicon$$yPostprint
000086283 909CO $$ooai:zaguan.unizar.es:86283$$particulos$$pdriver
000086283 951__ $$a2020-07-16-08:54:56
000086283 980__ $$aARTICLE