Lista de obras - Valérie Desquiret-Dumas

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

artículo científico publicado en 2017

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

artículo científico publicado en 2011

CLUH couples mitochondrial distribution to the energetic and metabolic status.

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2005

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Lista de obras de 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