List of works - Valérie Desquiret-Dumas

Acute intermittent porphyria causes hepatic mitochondrial energetic failure in a mouse model

scientific article published on 13 April 2014

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

scientific article

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

scientific article published on 4 April 2017

Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation

scientific article published on 01 February 2011

CLUH couples mitochondrial distribution to the energetic and metabolic status.

scientific article published on 19 April 2017

Deep sequencing shows that oocytes are not prone to accumulate mtDNA heteroplasmic mutations during ovarian ageing.

scientific article published in October 2017

Dinitrophenol-induced mitochondrial uncoupling in vivo triggers respiratory adaptation in HepG2 cells.

scientific article published on 6 December 2005

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

scientific article (publication date: October 2014)

Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity.

scientific article published on 10 November 2009

Heme oxygenase-1 induction restores high-blood-flow-dependent remodeling and endothelial function in mesenteric arteries of old rats.

scientific article published on January 2011

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.

scientific article

Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration.

scientific article

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

scientific article

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

scientific article published on 21 September 2010

Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria

scientific article published on 12 June 2015

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

scientific article published on 23 August 2015

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.

scientific article

Ovarian ageing: the role of mitochondria in oocytes and follicles.

scientific article published on 25 August 2016

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

scientific article published on 11 July 2013

Resveratrol Directly Binds to Mitochondrial Complex I and Increases Oxidative Stress in Brain Mitochondria of Aged Mice

scientific article (publication date: 2015)

Resveratrol induces a mitochondrial complex I-dependent increase in NADH oxidation responsible for sirtuin activation in liver cells

scientific article

Skeletal muscle transcriptional coactivator PGC-1α mediates mitochondrial, but not metabolic, changes during calorie restriction

scientific article published on 3 February 2012

Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function.

scientific article published on 17 March 2012

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.

scientific article published in February 2017

The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.

scientific article published in November 2016

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress

scientific article published on 15 September 2016

The mitochondrial DNA content of cumulus granulosa cells is linked to embryo quality

scientific article published on 6 January 2017

List of works by Valérie Desquiret-Dumas

Acute intermittent porphyria causes hepatic mitochondrial energetic failure in a mouse model

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation

CLUH couples mitochondrial distribution to the energetic and metabolic status.

Deep sequencing shows that oocytes are not prone to accumulate mtDNA heteroplasmic mutations during ovarian ageing.

Dinitrophenol-induced mitochondrial uncoupling in vivo triggers respiratory adaptation in HepG2 cells.

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity.

Heme oxygenase-1 induction restores high-blood-flow-dependent remodeling and endothelial function in mesenteric arteries of old rats.

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.

Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration.

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.

Ovarian ageing: the role of mitochondria in oocytes and follicles.

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Resveratrol Directly Binds to Mitochondrial Complex I and Increases Oxidative Stress in Brain Mitochondria of Aged Mice

Resveratrol induces a mitochondrial complex I-dependent increase in NADH oxidation responsible for sirtuin activation in liver cells

Skeletal muscle transcriptional coactivator PGC-1α mediates mitochondrial, but not metabolic, changes during calorie restriction

Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function.

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.

The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress

The mitochondrial DNA content of cumulus granulosa cells is linked to embryo quality