Lista de obras - Pierre Rustin - Dominio Público Uruguay

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

artículo científico publicado en 2003

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

artículo científico publicado en 2005

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

artículo científico publicado el 1 de octubre de 1997

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

artículo científico publicado en 2007

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

artículo científico publicado el 7 de agosto de 1998

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

artículo científico publicado en 2013

Alternative respiratory chain enzymes: Therapeutic potential and possible pitfalls

artículo científico publicado en 2018

Animal models for respiratory chain disease ⬇️

artículo científico publicado el 1 de diciembre de 2001

Antenatal manifestations of mitochondrial respiratory chain deficiency

artículo científico publicado en 2003

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.

artículo científico publicado en 2007

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

artículo científico publicado el 9 de junio de 1998

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria ⬇️

artículo científico publicado el 1 de julio de 1995

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

artículo científico publicado en 2004

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

Efficiency of metabolic screening in childhood cardiomyopathies ⬇️

artículo científico publicado el 1 de mayo de 1998

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2003

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado el 15 de marzo de 2012

Human cultured skin fibroblasts survive profound inherited ubiquinone depletion ⬇️

artículo científico publicado el 1 de julio de 2001

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

artículo científico publicado en 2004

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

artículo científico publicado en 2009

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

artículo científico publicado el 19 de febrero de 2013

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

artículo científico publicado en 2011

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

artículo científico publicado el 13 de junio de 1979

Mitochondria are physiologically maintained at close to 50 °C.

artículo científico publicado en 2018

Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis

artículo científico publicado en 2003

Mitochondrial cytochrome c oxidase deficiency

artículo científico publicado en 2016

Mitochondrial response to controlled nutrition in health and disease ⬇️

artículo científico publicado el 14 de enero de 2011

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

artículo científico publicado en 2003

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

artículo científico publicado el 1 de septiembre de 1997

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

artículo científico publicado el 1 de diciembre de 1997

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

artículo científico publicado en 2012

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

artículo científico publicado el 1 de junio de 1998

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

artículo científico publicado en 2006

SDH mutations establish a hypermethylator phenotype in paraganglioma.

artículo científico publicado en 2013

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

artículo científico publicado el 1 de septiembre de 1997

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

artículo científico publicado el 10 de julio de 1997

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

artículo científico publicado el 1 de agosto de 1995

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado el 30 de julio de 1997

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

artículo científico publicado en 2009

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

artículo científico publicado en 2004

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

artículo científico publicado en 2007

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

artículo científico publicado el 1 de enero de 1993

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

Therapies in inborn errors of oxidative metabolism.

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Lista de obras de 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