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dc.contributor.authorBarbosa-Gouveia, S.
dc.contributor.authorGonzález Vioque, Emiliano
dc.contributor.authorBorges ., Filipa
dc.contributor.authorGutiérrez-Solana, L.
dc.contributor.authorWintjes, L.
dc.contributor.authorKappen, A.
dc.contributor.authorvan den Heuvel, L.
dc.contributor.authorLeis Trabazo, María Rosaura 
dc.contributor.authorRodenburg, R.
dc.contributor.authorCouce Pico, María Luz 
dc.date.accessioned2021-09-29T12:43:01Z
dc.date.available2021-09-29T12:43:01Z
dc.date.issued2019
dc.identifier.issn2077-0383
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pubmed/31434271es
dc.identifier.urihttp://hdl.handle.net/20.500.11940/15375
dc.description.abstractComplex I (nicotinamide adenine dinucleotide (NADH): ubiquinone oxidoreductase) is the largest complex of the mitochondrial oxidative phosphorylation system (OXPHOS) system. Forty-four subunits encoded in nuclear and mitochondrial genomes compose this multiprotein complex, its assembly being a highly complex process involving at least 15 additional nuclear encoded assembly factors. Complex I deficiency is a mitochondrial disorder usually associated with early-onset severe multisystem disorders characterized by highly variable clinical manifestations. Flavin adenine dinucleotide (FAD)-dependent oxidoreductase domain-containing protein 1 (FOXRED1) is a complex I assembly factor. To date, only five patients with mitochondrial complex I deficiency due to mutations in FOXRED1 have been characterized. Here, we describe a child with ataxia, epilepsy and psychomotor developmental delay carrying two heterozygous FOXRED1 variants, c.920G>A (p.Gly307Glu) and c.733+1G>A. We demonstrate the molecular mechanism supporting the pathogenicity of the FOXRED1 variants, showing a clear deficiency of complex I activity. The reduction in the steady-state level of complex I holoenzyme in patient fibroblasts, confirmed the pathogenicity of the variants and showed the molecular mechanism behind their pathogenicity. A comparison of the clinical presentation of the index case with the previously described cases allowed deepening our knowledge about the clinical variability associated with FOXRED1 defects.en
dc.language.isoeng
dc.rightsAtribución 4.0 Internacional
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subject.meshEpilepsy*
dc.titleIdentification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiencyes
dc.typeArtigoes
dc.authorsophosBarbosa-Gouveia, S.
dc.authorsophosGonzález-Vioque, E.
dc.authorsophosBorges, F.
dc.authorsophosGutiérrez-Solana, L.
dc.authorsophosWintjes, L.
dc.authorsophosKappen, A.
dc.authorsophosvan den Heuvel, L.
dc.authorsophosLeis, R.
dc.authorsophosRodenburg, R.
dc.authorsophosCouce, M. L.
dc.identifier.doi10.3390/jcm8081262
dc.identifier.pmid31434271
dc.identifier.sophos30576
dc.issue.number8es
dc.journal.titleJournal of Clinical Medicinees
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago de Compostela - Complexo Hospitalario Universitario de Santiago de Compostela::Pediatría
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS)
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago de Compostela - Complexo Hospitalario Universitario de Santiago de Compostela::Neonatoloxía
dc.page.initial1262es
dc.relation.publisherversionhttps://res.mdpi.com/d_attachment/jcm/jcm-08-01262/article_deploy/jcm-08-01262.pdf
dc.rights.accessRightsopenAccess
dc.subject.decsepilepsia*
dc.subject.keywordCHUS
dc.subject.keywordIDIS
dc.typefidesArtículo Científico (incluye Original, Original breve, Revisión Sistemática y Meta-análisis)
dc.typesophosArtículo Original
dc.volume.number8es


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