List of works - Pierre Rustin

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

scientific article (publication date: July 2003)

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency

scientific article (publication date: March 2005)

Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia ⬇️

scientific article (publication date: October 1997)

Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits

scientific article

Alteration of mitochondrial DNA and RNA level in human fibroblasts with impaired vitamin B12 coenzyme synthesis ⬇️

scientific article published on August 7, 1998

Alternative oxidase expression in the mouse enables bypassing cytochrome c oxidase blockade and limits mitochondrial ROS overproduction

scientific article

Alternative respiratory chain enzymes: Therapeutic potential and possible pitfalls

scientific article published on 17 October 2018

Animal models for respiratory chain disease ⬇️

scientific article published on December 1, 2001

Antenatal manifestations of mitochondrial respiratory chain deficiency

scientific article

Broad AOX expression in a genetically tractable mouse model does not disturb normal physiology

scientific article published on 14 December 2016

Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

scientific article

Coamplification of Nuclear Pseudogenes and Assessment of Heteroplasmy of Mitochondrial DNA Mutations ⬇️

scientific article published on June 9, 1998

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria ⬇️

scientific article published on July 1, 1995

Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1

scientific article

Diiron centre mutations in Ciona intestinalis alternative oxidase abolish enzymatic activity and prevent rescue of cytochrome oxidase deficiency in flies

scientific article

Downregulation of apoptosis-inducing factor in Harlequin mice induces progressive and severe optic atrophy which is durably prevented by AAV2-AIF1 gene therapy

scientific article

Efficiency of metabolic screening in childhood cardiomyopathies ⬇️

scientific article published on 01 May 1998

Engineering the alternative oxidase gene to better understand and counteract mitochondrial defects: state of the art and perspectives.

scientific article published on April 2014

Evolutionarily conserved susceptibility of the mitochondrial respiratory chain to SDHI pesticides and its consequence on the impact of SDHIs on human cultured cells

scientific article published on 07 November 2019

Expression of alternative oxidase in Drosophila ameliorates diverse phenotypes due to cytochrome oxidase deficiency

scientific article

Expression of the alternative oxidase mitigates beta-amyloid production and toxicity in model systems

scientific article published on 14 April 2016

Expression of the yeast NADH dehydrogenase Ndi1 in Drosophila confers increased lifespan independently of dietary restriction.

scientific article published on 30 April 2010

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome

scientific article (publication date: May 2003)

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas

scientific article published on 13 December 2013

Glucose modulates respiratory complex I activity in response to acute mitochondrial dysfunction.

scientific article published on 24 September 2012

HIV-1 Tat protein directly induces mitochondrial membrane permeabilization and inactivates cytochrome c oxidase ⬇️

scientific article published on March 15, 2012

Human cultured skin fibroblasts survive profound inherited ubiquinone depletion ⬇️

scientific article published on 01 July 2001

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

scientific article

Impaired nuclear Nrf2 translocation undermines the oxidative stress response in Friedreich ataxia

scientific article

KBP–cytoskeleton interactions underlie developmental anomalies in Goldberg–Shprintzen syndrome ⬇️

scientific article published on February 19, 2013

Longevity-relevant regulation of autophagy at the level of the acetylproteome

scientific article published in June 2011

Malic enzyme activity and cyanide-insensitive electron transport in plant mitochondria ⬇️

scientific article published on June 13, 1979

Mitochondria are physiologically maintained at close to 50 °C.

scientific article published on 25 January 2018

Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis

scientific article

Mitochondrial cytochrome c oxidase deficiency

scientific article

Mitochondrial response to controlled nutrition in health and disease ⬇️

scientific article published on January 14, 2011

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

scientific article

Neuroglobin involvement in respiratory chain function and retinal ganglion cell integrity

scientific journal article

Nicotinamide adenine dinucleotides permeate through mitochondrial membranes in human Epstein-Barr virus-transformed lymphocytes

scientific article published on September 1, 1997

No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency ⬇️

scientific article published on 01 December 1997

PGC-1α is dispensable for exercise-induced mitochondrial biogenesis in skeletal muscle

scientific article

Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation? ⬇️

scientific article published on 01 June 1998

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

scientific article published in March 2006

SDH mutations establish a hypermethylator phenotype in paraganglioma.

scientific article published on 23 May 2013

Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of leigh syndrome ⬇️

scientific article published on 01 September 1997

Sequence and structure of the human OXA1L gene and its upstream elements ⬇️

scientific article published on July 10, 1997

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome ⬇️

scientific article published on 01 August 1995

Spermidine and resveratrol induce autophagy by distinct pathways converging on the acetylproteome ⬇️

scientific article

Stabilization of hypoxia-inducible factor-1alpha protein in hypoxia occurs independently of mitochondrial reactive oxygen species production.

scientific article

Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?

scientific article published on 14 December 2011

The Consequences of a Mild Respiratory Chain Deficiency on Substrate Competitive Oxidation in Human Mitochondria ⬇️

scientific article published on July 30, 1997

The alternative oxidase, a tool for compensating cytochrome c oxidase deficiency in human cells.

scientific article

The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers

scientific article (publication date: March 2004)

The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis

scientific article

The investigation of respiratory chain disorders in heart using endomyocardial biopsies ⬇️

scientific article published on 01 January 1993

The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes

scientific article

The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes

scientific article

Therapies in inborn errors of oxidative metabolism.

scientific article

Translocator Protein-Mediated Stabilization of Mitochondrial Architecture during Inflammation Stress in Colonic Cells

scientific article

Use of human cancer cell lines mitochondria to explore the mechanisms of BH3 peptides and ABT-737-induced mitochondrial membrane permeabilization

scientific article

List of works by Pierre Rustin

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency

Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia ⬇️

Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits

Alteration of mitochondrial DNA and RNA level in human fibroblasts with impaired vitamin B12 coenzyme synthesis ⬇️

Alternative oxidase expression in the mouse enables bypassing cytochrome c oxidase blockade and limits mitochondrial ROS overproduction

Alternative respiratory chain enzymes: Therapeutic potential and possible pitfalls

Animal models for respiratory chain disease ⬇️

Antenatal manifestations of mitochondrial respiratory chain deficiency

Broad AOX expression in a genetically tractable mouse model does not disturb normal physiology

Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

Coamplification of Nuclear Pseudogenes and Assessment of Heteroplasmy of Mitochondrial DNA Mutations ⬇️

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria ⬇️

Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1

Diiron centre mutations in Ciona intestinalis alternative oxidase abolish enzymatic activity and prevent rescue of cytochrome oxidase deficiency in flies

Downregulation of apoptosis-inducing factor in Harlequin mice induces progressive and severe optic atrophy which is durably prevented by AAV2-AIF1 gene therapy

Efficiency of metabolic screening in childhood cardiomyopathies ⬇️

Engineering the alternative oxidase gene to better understand and counteract mitochondrial defects: state of the art and perspectives.

Evolutionarily conserved susceptibility of the mitochondrial respiratory chain to SDHI pesticides and its consequence on the impact of SDHIs on human cultured cells

Expression of alternative oxidase in Drosophila ameliorates diverse phenotypes due to cytochrome oxidase deficiency

Expression of the alternative oxidase mitigates beta-amyloid production and toxicity in model systems

Expression of the yeast NADH dehydrogenase Ndi1 in Drosophila confers increased lifespan independently of dietary restriction.

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas

Glucose modulates respiratory complex I activity in response to acute mitochondrial dysfunction.

HIV-1 Tat protein directly induces mitochondrial membrane permeabilization and inactivates cytochrome c oxidase ⬇️

Human cultured skin fibroblasts survive profound inherited ubiquinone depletion ⬇️

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

Impaired nuclear Nrf2 translocation undermines the oxidative stress response in Friedreich ataxia

KBP–cytoskeleton interactions underlie developmental anomalies in Goldberg–Shprintzen syndrome ⬇️

Longevity-relevant regulation of autophagy at the level of the acetylproteome

Malic enzyme activity and cyanide-insensitive electron transport in plant mitochondria ⬇️

Mitochondria are physiologically maintained at close to 50 °C.

Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis

Mitochondrial cytochrome c oxidase deficiency

Mitochondrial response to controlled nutrition in health and disease ⬇️

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

Neuroglobin involvement in respiratory chain function and retinal ganglion cell integrity

Nicotinamide adenine dinucleotides permeate through mitochondrial membranes in human Epstein-Barr virus-transformed lymphocytes

No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency ⬇️

PGC-1α is dispensable for exercise-induced mitochondrial biogenesis in skeletal muscle

Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation? ⬇️

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

SDH mutations establish a hypermethylator phenotype in paraganglioma.

Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of leigh syndrome ⬇️

Sequence and structure of the human OXA1L gene and its upstream elements ⬇️

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome ⬇️

Spermidine and resveratrol induce autophagy by distinct pathways converging on the acetylproteome ⬇️

Stabilization of hypoxia-inducible factor-1alpha protein in hypoxia occurs independently of mitochondrial reactive oxygen species production.

Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?

The Consequences of a Mild Respiratory Chain Deficiency on Substrate Competitive Oxidation in Human Mitochondria ⬇️

The alternative oxidase, a tool for compensating cytochrome c oxidase deficiency in human cells.

The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers

The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis

The investigation of respiratory chain disorders in heart using endomyocardial biopsies ⬇️

The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes

The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes

Therapies in inborn errors of oxidative metabolism.

Translocator Protein-Mediated Stabilization of Mitochondrial Architecture during Inflammation Stress in Colonic Cells

Use of human cancer cell lines mitochondria to explore the mechanisms of BH3 peptides and ABT-737-induced mitochondrial membrane permeabilization