List of works - Ann E Frazier

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

scientific article

Accessory subunits are integral for assembly and function of human mitochondrial complex I.

scientific article

Assessment of mitochondrial respiratory chain enzymes in cells and tissues

scientific article published on 14 December 2019

COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2

scientific article

Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I

scientific article

Deletion of the Complex I Subunit NDUFS4 Adversely Modulates Cellular Differentiation.

scientific article published on 26 November 2015

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

scientific article published on 09 July 2020

Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome

scientific article published on 04 November 2019

Functional characterization of Friedreich ataxia iPS-derived neuronal progenitors and their integration in the adult brain

scientific article

High-intensity training induces non-stoichiometric changes in the mitochondrial proteome of human skeletal muscle without reorganisation of respiratory chain content

scientific article published on 03 December 2021

Loss of BIM increases mitochondrial oxygen consumption and lipid oxidation, reduces adiposity and improves insulin sensitivity in mice

scientific article

Mitochondrial OXA Translocase Plays a Major Role in Biogenesis of Inner-Membrane Proteins

scientific article published on May 2016

Mitochondrial energy generation disorders: genes, mechanisms and clues to pathology.

scientific article

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

scientific article

N-Acetylcysteine improves mitochondrial function and ameliorates behavioral deficits in the R6/1 mouse model of Huntington's disease

scientific article

Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4fky/fky mouse.

scientific article

Reply: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.

scientific article published on 6 October 2017

Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex.

scientific article published on 11 July 2017

The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism

scientific article published on 21 January 2021

List of works by Ann E Frazier

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Accessory subunits are integral for assembly and function of human mitochondrial complex I.

Assessment of mitochondrial respiratory chain enzymes in cells and tissues

COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2

Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I

Deletion of the Complex I Subunit NDUFS4 Adversely Modulates Cellular Differentiation.

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome

Functional characterization of Friedreich ataxia iPS-derived neuronal progenitors and their integration in the adult brain

High-intensity training induces non-stoichiometric changes in the mitochondrial proteome of human skeletal muscle without reorganisation of respiratory chain content

Loss of BIM increases mitochondrial oxygen consumption and lipid oxidation, reduces adiposity and improves insulin sensitivity in mice

Mitochondrial OXA Translocase Plays a Major Role in Biogenesis of Inner-Membrane Proteins

Mitochondrial energy generation disorders: genes, mechanisms and clues to pathology.

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

N-Acetylcysteine improves mitochondrial function and ameliorates behavioral deficits in the R6/1 mouse model of Huntington's disease

Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4fky/fky mouse.

Reply: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.

Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex.

The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism