about
Loss of mitochondrial protease OMA1 alters processing of the GTPase OPA1 and causes obesity and defective thermogenesis in miceMPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletionNonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTuNovel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.How do human cells react to the absence of mitochondrial DNA?Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathyDefective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegenerationSevere infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase.COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation.Five entry points of the mitochondrially encoded subunits in mammalian complex I assemblyCOA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiencyTTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.Mitochondrial gene expression is regulated at multiple levels and differentially in the heart and liver by thyroid hormones.In vitro transcription termination activity of the Drosophila mitochondrial DNA-binding protein DmTTF.Mitochondrial complex III Rieske Fe-S protein processing and assembly.Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage.Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype.Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy.Assembly of mammalian oxidative phosphorylation complexes I-V and supercomplexesProteomics and gene expression analyses of mitochondria from squalene-treated apoE-deficient mice identify short-chain specific acyl-CoA dehydrogenase changes associated with fatty liver ameliorationTissue-specific differences in mitochondrial activity and biogenesisIsolation of mitochondria for biogenetical studies: An update.APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROSInhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7miR-181a/b downregulation exerts a protective action on mitochondrial disease modelsMitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in DrosophilaRespiratory supercomplexes act as a platform for complex III-mediated maturation of human mitochondrial complexes I and IV
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Erika Fernandez-Vizarra
@ast
Erika Fernandez-Vizarra
@en
Erika Fernandez-Vizarra
@es
Erika Fernandez-Vizarra
@nl
Erika Fernandez-Vizarra
@sl
type
label
Erika Fernandez-Vizarra
@ast
Erika Fernandez-Vizarra
@en
Erika Fernandez-Vizarra
@es
Erika Fernandez-Vizarra
@nl
Erika Fernandez-Vizarra
@sl
prefLabel
Erika Fernandez-Vizarra
@ast
Erika Fernandez-Vizarra
@en
Erika Fernandez-Vizarra
@es
Erika Fernandez-Vizarra
@nl
Erika Fernandez-Vizarra
@sl
P106
P21
P31
P496
0000-0002-2469-142X