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A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

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dc.creatorOrtega-Recalde, Oscarspa
dc.creatorFonseca Mendoza, Dora Janeth
dc.creatorPatiño, Liliana Catherinespa
dc.creatorAtuesta, Juan Jaimespa
dc.creatorRivera-Nieto, Carolinaspa
dc.creatorRestrepo Fernández, Carlos Martín
dc.creatorMateus, Heidi Elianaspa
dc.creatorvan der Knaap, Marjo S.spa
dc.creatorLaissue, Paul
dc.date.accessioned2020-05-25T23:57:04Z
dc.date.available2020-05-25T23:57:04Z
dc.date.created2013spa
dc.description.abstractNDUFV1 mutations have been related to encephalopathic phenotypes due to mitochondrial energy metabolism disturbances. In this study, we report two siblings affected by a diffuse leukodystrophy, who carry the NDUFV1 c.1156C>T (p.Arg386Cys) missense mutation and a novel 42-bp deletion. Bioinformatic and molecular analysis indicated that this deletion lead to the synthesis of mRNA molecules carrying a premature stop codon, which might be degraded by the nonsense-mediated decay system. Our results add information on the molecular basis and the phenotypic features of mitochondrial disease caused by NDUFV1 mutations. © 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.mito.2013.03.010
dc.identifier.issn15677249
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22599
dc.language.isoengspa
dc.relation.citationEndPage754
dc.relation.citationIssueNo. 6
dc.relation.citationStartPage749
dc.relation.citationTitleMitochondrion
dc.relation.citationVolumeVol. 13
dc.relation.ispartofMitochondrion, ISSN:15677249, Vol.13, No.6 (2013); pp. 749-754spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84887025413&doi=10.1016%2fj.mito.2013.03.010&partnerID=40&md5=ea64f122c4863474005cbe689af9474bspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordFlavoproteinspa
dc.subject.keywordmissenseeng
dc.subject.keywordReduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinone)spa
dc.subject.keywordReduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinone) flavoprotein 1spa
dc.subject.keywordUnclassified drugspa
dc.subject.keywordArticlespa
dc.subject.keywordBioinformaticsspa
dc.subject.keywordBlood analysisspa
dc.subject.keywordCerebrospinal fluid analysisspa
dc.subject.keywordChildspa
dc.subject.keywordClinical articlespa
dc.subject.keywordClinical featurespa
dc.subject.keywordDiffuse leukodystrophyspa
dc.subject.keywordDisorders of mitochondrial functionsspa
dc.subject.keywordFemalespa
dc.subject.keywordGene deletionspa
dc.subject.keywordHeterozygosityspa
dc.subject.keywordHumanspa
dc.subject.keywordHuman tissuespa
dc.subject.keywordLeukodystrophyspa
dc.subject.keywordMalespa
dc.subject.keywordMissense mutationspa
dc.subject.keywordNuclear magnetic resonance imagingspa
dc.subject.keywordNucleotide sequencespa
dc.subject.keywordPreschool childspa
dc.subject.keywordPriority journalspa
dc.subject.keywordRna synthesisspa
dc.subject.keywordSkin biopsyspa
dc.subject.keywordStop codonspa
dc.subject.keywordCispa
dc.subject.keywordComplex ispa
dc.subject.keywordDiffuse leukodystrophyspa
dc.subject.keywordGeneticsspa
dc.subject.keywordMdspa
dc.subject.keywordMitochondrial diseasespa
dc.subject.keywordMitochondrial respiratory chain disordersspa
dc.subject.keywordNdufv1 mutationsspa
dc.subject.keywordNmdspa
dc.subject.keywordNonsense-mediated decayspa
dc.subject.keywordAmino acid sequencespa
dc.subject.keywordChildeng
dc.subject.keywordEnergy metabolismspa
dc.subject.keywordHeterozygotespa
dc.subject.keywordHumansspa
dc.subject.keywordMagnetic resonance imagingspa
dc.subject.keywordMalespa
dc.subject.keywordMitochondrial diseasesspa
dc.subject.keywordMolecular sequence dataspa
dc.subject.keywordMutationeng
dc.subject.keywordNadh dehydrogenasespa
dc.subject.keywordDiffuse leukodystrophyspa
dc.subject.keywordGeneticsspa
dc.subject.keywordMitochondrial diseasespa
dc.subject.keywordNdufv1 mutationsspa
dc.titleA novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutationsspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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