N. Gueguen

发表

Hereditary optic neuropathies share a common mitochondrial coupling defect

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2008, Annals of neurology.

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

V. Desquiret-Dumas, D. Bonneau, P. Amati‐Bonneau, 2012, The international journal of biochemistry & cell biology.

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

V. Desquiret-Dumas, E. Colin, D. Bonneau, 2014, Brain : a journal of neurology.

D. Milea, C. Bris, V. Desquiret-Dumas, 2016, Neurobiology of Disease.

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

D. Milea, C. Bris, V. Desquiret-Dumas, 2016, Brain : a journal of neurology.

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

D. Milea, V. Desquiret-Dumas, D. Bonneau, 2017, Investigative ophthalmology & visual science.

DRP1 haploinsufficiency attenuates cardiac ischemia/reperfusion injuries

G. Lenaers, P. Reynier, B. Pillot, 2021, PloS one.

New Insights into Muscle Fiber Types in the Pig

L. Lefaucheur, P. Ecolan, N. Gueguen, 2002, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS.

D. Wallace, V. Desquiret-Dumas, D. Bonneau, 2012, Biochimica et biophysica acta.

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

V. Desquiret-Dumas, D. Bonneau, P. Amati‐Bonneau, 2015, The international journal of biochemistry & cell biology.

Overexpression of the Mitochondrial T3 Receptor Induces Skeletal Muscle Atrophy during Aging

F. Casas, G. Cabello, G. Fouret, 2009, PloS one.

The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.

N. Boddaert, J. Renou, Jing Wang, 2012, Brain : a journal of neurology.

Ca2+‐activated myosin‐ATPases, creatine and adenylate kinases regulate mitochondrial function according to myofibre type in rabbit

L. Lefaucheur, P. Herpin, P. Ecolan, 2005, The Journal of physiology.

Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot–Marie–Tooth type 2A disease

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2010, neurogenetics.

Phostine 3.1a as a pharmacological compound with antiangiogenic properties against diseases with excess vascularization

S. Germain, R. Andriantsitohaina, G. Lenaers, 2019, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Mitochondrial coupling defect in Charcot–Marie–Tooth type 2A disease

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2007, Annals of neurology.

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

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2011, Experimental Neurology.

Muscle fiber contractile type influences the regulation of mitochondrial function

L. Lefaucheur, P. Herpin, N. Gueguen, 2005, Molecular and Cellular Biochemistry.

Methyl donor deficiency induces cardiomyopathy through altered methylation/acetylation of PGC‐1α by PRMT1 and SIRT1

P. Lacolley, P. Marie, M. Herrmann, 2011, The Journal of pathology.

Iron deficiency without anemia is responsible for decreased left ventricular function and reduced mitochondrial complex I activity in a mouse model.

V. Procaccio, D. Henrion, F. Prunier, 2018, International journal of cardiology.

Reply from Naïg Gueguen, Louis Lefaucheur and Patrick Herpin

L. Lefaucheur, P. Herpin, N. Gueguen, 2005 .

Phenotypic spectrum of MFN2 mutations in the Spanish population

D. Bonneau, V. Volpini, A. Chevrollier, 2009, Journal of Medical Genetics.

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2009, neurogenetics.

The multiple facets of mitochondrial regulations controlling cellular thermogenesis

G. Lenaers, H. Tricoire-Leignel, N. Gueguen, 2022, Cellular and Molecular Life Sciences.

The accumulation of assembly intermediates of the mitochondrial complex I matrix arm is reduced by limiting glucose uptake in a neuronal-like model of MELAS syndrome.

C. Bris, V. Desquiret-Dumas, D. Bonneau, 2018, Biochimica et biophysica acta. Molecular basis of disease.

MULTIPLE SCLEROSIS–LIKE DISORDER IN OPA1-RELATED AUTOSOMAL DOMINANT OPTIC ATROPHY

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2008, Neurology.

Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2011, Neurology.

Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant

G. Garraux, G. Lenaers, B. Wagner, 2022, Frontiers in Neurology.

Iron Deficiency without Anemia Decreases Physical Endurance and Mitochondrial Complex I Activity of Oxidative Skeletal Muscle in the Mouse

P. Reynier, V. Procaccio, D. Henrion, 2021, Nutrients.

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

J. Martinou, D. Bonneau, P. Amati‐Bonneau, 2011, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

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

J. Leid, V. Desquiret-Dumas, Majida Charif, 2015, American journal of medical genetics. Part A.

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

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2010, Mitochondrion.

Reversible optic neuropathy with OPA1 exon 5b mutation

D. Wallace, D. Milea, D. Bonneau, 2008, Annals of neurology.

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

B. Lorenz, P. Chinnery, P. Yu-Wai-Man, 2015, American journal of human genetics.

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

D. Milea, V. Desquiret-Dumas, D. Bonneau, 2011, BMC Research Notes.

Warburg-like effect is a hallmark of complex I assembly defects.

D. Goudenège, V. Desquiret-Dumas, D. Bonneau, 2019, Biochimica et biophysica acta. Molecular basis of disease.

Control of skeletal muscle mitochondria respiration by adenine nucleotides: differential effect of ADP and ATP according to muscle contractile type in pigs.

L. Lefaucheur, A. Vincent, P. Herpin, 2005, Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology.

Overexpression of the Mitochondrial T3 Receptor p43 Induces a Shift in Skeletal Muscle Fiber Types

F. Casas, G. Cabello, Olivier R Baris, 2008, PloS one.

The multiple facets of mitochondrial regulations controlling cellular thermogenesis

G. Lenaers, H. Tricoire-Leignel, N. Gueguen, 2022, Cellular and Molecular Life Sciences.

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

M. Votruba, C. La Morgia, P. Yu-Wai-Man, 2020, Neurology: Genetics.

Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2022, Genes.

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

V. Desquiret-Dumas, P. Reynier, T. Lefèbvre, 2014, The international journal of biochemistry & cell biology.

Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2022, Biomedicines.

Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis

M. Baumgartner, V. Desquiret-Dumas, P. Reynier, 2019, Journal of Human Genetics.

Pro-oxidant effect of ALA is implicated in mitochondrial dysfunction of HepG2 cells.

P. Reynier, H. Puy, C. Schmitt, 2014, Biochimie.

Secondary coenzyme q deficiency in neurological disorders.

G. Lenaers, P. Reynier, Olivier R Baris, 2021, Free radical biology & medicine.

Comparison of Spheroids Formed by Rat Glioma Stem Cells and Neural Stem Cells Reveals Differences in Glucose Metabolism and Promising Therapeutic Applications*

P. Naveilhan, P. Reynier, V. Bonnamain, 2012, The Journal of Biological Chemistry.

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

V. Desquiret-Dumas, G. Lenaers, P. Reynier, 2015, PloS one.

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

V. Desquiret-Dumas, D. Bonneau, P. Amati‐Bonneau, 2017, Journal of cellular and molecular medicine.

OPA1-associated disorders: phenotypes and pathophysiology.

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2009, The international journal of biochemistry & cell biology.

Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect

A. Toutain, D. Bonneau, P. Amati‐Bonneau, 2009, Molecular vision.

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Yufeng Shen, R. Ganetzky, C. Voisset, 2022, Journal of inherited metabolic disease.

F. Savagner, Y. Malthiéry, N. Gueguen, 2010, The FEBS journal.

Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders

M. Martin-Négrier, C. Bris, D. Goudenège, 2021, Genetics in Medicine.

CLUH couples mitochondrial distribution to the energetic and metabolic status

D. Logan, D. Goudenège, V. Desquiret-Dumas, 2017, Journal of Cell Science.

Study of mitochondrial function in placental insufficiency.

V. Desquiret-Dumas, G. Lenaers, P. Reynier, 2018, Placenta.

Jean-Fred Fontaine, Audrey Donnart, F. Savagner, 2013, PloS one.

AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages

P. Reynier, M. Fontenay, O. Hermine, 2015, Cell Death and Disease.

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

H. Prokisch, R. Jech, R. Rodenburg, 2021, Annals of neurology.

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

N. Boddaert, G. Mollet, O. Gribouval, 2014, American Journal of Human Genetics.

A mitochondria-specific isoform of FASTK is present in mitochondrial RNA granules and regulates gene expression and function.

Alexis A. Jourdain, P. Anderson, J. Martinou, 2015, Cell reports.

AMitochondria-Specific Is oformof FASTK Is Present In Mitochondrial RNA Granules and Regulates Gene Expression and Function Graphical

Alexis A. Jourdain, P. Anderson, J. Martinou, 2015 .

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

V. Desquiret-Dumas, P. Reynier, J. Deybach, 2015, Human molecular genetics.

Mitochondrial respiratory states and rates

Sharma, Whiejong M. Han, Duchen, 2019 .

The Long Non-Coding RNA SAMMSON Is a Regulator of Chemosensitivity and Metabolic Orientation in MCF-7 Doxorubicin-Resistant Breast Cancer Cells

V. Desquiret-Dumas, G. Lenaers, P. Reynier, 2021, Biology.

Cancer/Testis Antigen 55 is required for cancer cell proliferation and mitochondrial DNA maintenance.

Y. Pommier, D. Goudenège, V. Desquiret-Dumas, 2022, Mitochondrion.

Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K

D. Bonneau, G. Lenaers, P. Reynier, 2020, Experimental Neurology.

Mitochondrial effects of dexamethasone imply both membrane and cytosolic-initiated pathways in HepG2 cells.

P. Ritz, G. Simard, Y. Malthiéry, 2008, The international journal of biochemistry & cell biology.

Doxorubicin-Induced Autophagolysosome Formation Is Partly Prevented by Mitochondrial ROS Elimination in DOX-Resistant Breast Cancer Cells

V. Desquiret-Dumas, N. Gueguen, K. Mahéo, 2021, International journal of molecular sciences.

Expanding the phenotype of DNAJC30‐associated Leigh syndrome

R. Płoski, V. Desquiret-Dumas, V. Procaccio, 2022, Clinical genetics.

Optic neuropathy linked to ACAD9 pathogenic variants: a potentially riboflavin-responsive disorder?

M. Koenig, G. Lenaers, P. Reynier, 2021, Mitochondrion.

Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2017, Neurology: Genetics.

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

Daniel Henrion, Guy Lenaers, Patrizia Amati-Bonneau, 2017, Biochimica et biophysica acta. Molecular basis of disease.

NOVEL NDUFS 4 GENE MUTATION IN AN ATYPICAL LATE-ONSET MITOCHONDRIAL FORM OF MULTIFOCAL DYSTONIA Mitochondrial

D. Goudenège, V. Desquiret-Dumas, D. Bonneau, 2022 .

Mitochondrial Dysfunction in Mitochondrial Medicine: Current Limitations, Pitfalls, and Tomorrow.

G. Lenaers, P. Reynier, V. Weissig, 2021, Methods in molecular biology.

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations

A. Munnich, N. Boddaert, A. Rötig, 2020, Human mutation.

Resveratrol Induces a Mitochondrial Complex I-dependent Increase in NADH Oxidation Responsible for Sirtuin Activation in Liver Cells*

V. Desquiret-Dumas, D. Bonneau, P. Reynier, 2013, The Journal of Biological Chemistry.

Methyl donor deficiency impairs fatty acid oxidation through PGC-1α hypomethylation and decreased ER-α, ERR-α, and HNF-4α in the rat liver.

L. Peyrin-Biroulet, S. Blaise, J. Daval, 2012, Journal of hepatology.

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

M. Carbonelli, P. Gohier, P. Yu-Wai-Man, 2021, Brain communications.

Effects of the cannabinoid CB1 antagonist rimonabant on hepatic mitochondrial function in rats fed a high-fat diet.

G. Simard, Y. Malthiéry, N. Gueguen, 2009, American journal of physiology. Endocrinology and metabolism.

Increased Protein S-Glutathionylation in Leber’s Hereditary Optic Neuropathy (LHON)

D. Milea, C. Verma, R. Beuerman, 2020, International journal of molecular sciences.

Acetoacetate protects macrophages from lactic acidosis-induced mitochondrial dysfunction by metabolic reprograming

P. Reynier, V. Procaccio, F. Manero, 2021, Nature Communications.

Mitochondrial complex I defect resulting from exercise-induced lower limb ischemia in patients with peripheral arterial disease.

P. Abraham, C. Baufreton, P. Reynier, 2018, Journal of applied physiology.

Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration

G. Rebillard, B. Delprat, P. Chinnery, 2016, Cell Death Discovery.