List of works - Erika Fernandez-Vizarra

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS

scientific article published on 01 January 2019

Assembly of mammalian oxidative phosphorylation complexes I-V and supercomplexes

publication published on 20 July 2018

COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

scientific article published on 28 September 2016

COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation.

scientific article published on 17 August 2016

Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy.

scientific article published in January 2018

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

scientific article published on 23 December 2015

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

scientific article

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene

scientific article published on 3 September 2016

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency

scientific article published on 4 September 2008

Five entry points of the mitochondrially encoded subunits in mammalian complex I assembly

scientific article published on 12 April 2010

How do human cells react to the absence of mitochondrial DNA?

scientific article

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

scientific article

In vitro transcription termination activity of the Drosophila mitochondrial DNA-binding protein DmTTF.

scientific article published in May 2005

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

scientific article

Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7

scientific article published on 01 May 2019

Isolation of mitochondria for biogenetical studies: An update.

scientific article

Loss of COX4I1 Leads to Combined Respiratory Chain Deficiency and Impaired Mitochondrial Protein Synthesis

scientific article published in 2021

Loss of mitochondrial protease OMA1 alters processing of the GTPase OPA1 and causes obesity and defective thermogenesis in mice

scientific article

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

scientific article

MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase

scientific article published on February 2017

Mitochondrial complex III Rieske Fe-S protein processing and assembly

scientific article

Mitochondrial gene expression is regulated at multiple levels and differentially in the heart and liver by thyroid hormones.

scientific article published on 15 May 2008

Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila

scientific article published on 23 July 2019

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

scientific article

Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome

scientific article

Neural stem cells traffic functional mitochondria via extracellular vesicles

scientific article published on 07 April 2021

Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage

scientific article

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

scientific article

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).

scientific article

Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation

scientific article

Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy

scientific article published on 9 January 2012

Proteomics and gene expression analyses of mitochondria from squalene-treated apoE-deficient mice identify short-chain specific acyl-CoA dehydrogenase changes associated with fatty liver amelioration

article

Respiratory supercomplexes act as a platform for complex III-mediated maturation of human mitochondrial complexes I and IV

scientific article published on 08 January 2020

SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype

scientific article published on 27 March 2018

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase

scientific article published on 22 May 2008

TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.

scientific article published on 15 June 2017

Tissue-specific differences in mitochondrial activity and biogenesis

scientific article published on 07 October 2010

miR-181a/b downregulation exerts a protective action on mitochondrial disease models

scientific article published on 01 May 2019

List of works by Erika Fernandez-Vizarra

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS

Assembly of mammalian oxidative phosphorylation complexes I-V and supercomplexes

COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation.

Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy.

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency

Five entry points of the mitochondrially encoded subunits in mammalian complex I assembly

How do human cells react to the absence of mitochondrial DNA?

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

In vitro transcription termination activity of the Drosophila mitochondrial DNA-binding protein DmTTF.

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7

Isolation of mitochondria for biogenetical studies: An update.

Loss of COX4I1 Leads to Combined Respiratory Chain Deficiency and Impaired Mitochondrial Protein Synthesis

Loss of mitochondrial protease OMA1 alters processing of the GTPase OPA1 and causes obesity and defective thermogenesis in mice

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase

Mitochondrial complex III Rieske Fe-S protein processing and assembly

Mitochondrial gene expression is regulated at multiple levels and differentially in the heart and liver by thyroid hormones.

Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome

Neural stem cells traffic functional mitochondria via extracellular vesicles

Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).

Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation

Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy

Proteomics and gene expression analyses of mitochondria from squalene-treated apoE-deficient mice identify short-chain specific acyl-CoA dehydrogenase changes associated with fatty liver amelioration

Respiratory supercomplexes act as a platform for complex III-mediated maturation of human mitochondrial complexes I and IV

SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase

TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.

Tissue-specific differences in mitochondrial activity and biogenesis

miR-181a/b downregulation exerts a protective action on mitochondrial disease models