Dominique Chretien

UMR1163, 24 Boulevard Du Montparnasse
Paris, 75015, France

Last Updated: 09/26/2026

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Found 18 publications

Defects in Galactose Metabolism and Glycoconjugate Biosynthesis in a UDP-Glucose Pyrophosphorylase-Deficient Cell Line Are Reversed by Adding Galactose to the Growth Medium.

Defects in Galactose Metabolism and Glycoconjugate Biosynthesis in a UDP-Glucose Pyrophosphorylase-Deficient Cell Line Are Reversed by Adding Galactose to the Growth Medium.

Journal: International journal of molecular sciences

Published: February 06, 2020

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

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

Journal: PloS one

Published: August 08, 2019

The class 3 PI3K coordinates autophagy and mitochondrial lipid catabolism by controlling nuclear receptor PPARα.

The class 3 PI3K coordinates autophagy and mitochondrial lipid catabolism by controlling nuclear receptor PPARα.

Journal: Nature communications

Published: May 27, 2018

ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.

ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.

Journal: Neurology. Genetics

Published: August 27, 2017

Mitochondria are physiologically maintained at close to 50 °C.

Mitochondria are physiologically maintained at close to 50 °C.

Journal: PLoS biology

Published: August 07, 2017

An Effective, Versatile, and Inexpensive Device for Oxygen Uptake Measurement.

An Effective, Versatile, and Inexpensive Device for Oxygen Uptake Measurement.

Journal: Journal of clinical medicine

Published: April 03, 2017

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Journal: American journal of human genetics

Published: March 28, 2017

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.

Journal: eLife

Published: April 25, 2016

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.

Journal: Human mutation

Published: April 21, 2016

Mitochondrial cytochrome c oxidase deficiency.

Mitochondrial cytochrome c oxidase deficiency.

Journal: Clinical science (London, England : 1979)

Published: February 06, 2016

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.

Journal: Journal of medical genetics

Published: October 30, 2014

Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis.

Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis.

Journal: Molecular genetics and metabolism reports

Published: August 06, 2014

Showing 1-12 of 18

Last Updated: 09/26/2026