K. Fragaki

发表

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

C. Richelme, E. Ostergaard, A. Chaussenot, 2010, Journal of Medical Genetics.

A Novel Leishmania infantum Recombinant Antigen Which Elicits Interleukin 10 Production by Peripheral Blood Mononuclear Cells of Patients with Visceral Leishmaniasis

B. Mograbi, K. Fragaki, I. Suffia, 2000, Infection and Immunity.

Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice.

J. Kolesar, B. Kaufman, J. Ricci, 2016, Mitochondrion.

Sustained parasite burden in the spleen of Leishmania infantum-infected BALB/c mice is accompanied by expression of MCP-1 transcripts and lack of protection against challenge.

F. Anjuère, K. Fragaki, B. Ferruà, 2001, European cytokine network.

CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

E. Génin, P. Yu-Wai-Man, J. Ricci, 2015, EMBO molecular medicine.

Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse

E. Génin, D. Bohl, J. Ricci, 2019, Acta Neuropathologica.

Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency

A. Rötig, V. Desquiret-Dumas, V. Procaccio, 2012, European Journal of Human Genetics.

Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

E. Génin, A. Brice, P. Yu-Wai-Man, 2014, Brain : a journal of neurology.

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions

P. Yu-Wai-Man, A. Chaussenot, S. Bannwarth, 2017, Human molecular genetics.

Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia.

A. Chaussenot, S. Bannwarth, A. Cano, 2011, Mitochondrion.

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Marni J. Falk, A. Rötig, I. Durand-zaleski, 2013, Journal of Medical Genetics.

Immunisation with DNA encoding Leishmania infantum protein papLe22 decreases the frequency of parasitemic episodes in infected hamsters.

K. Fragaki, I. Suffia, B. Ferruà, 2001, Vaccine.

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

E. Génin, J. Ricci, B. Udd, 2018, Neurobiology of Disease.

Feasibility of nasal epithelial brushing for the study of airway epithelial functions in CF infants.

J. Zahm, O. Bajolet, C. Coraux, 2008, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Downregulation by a long-acting beta2-adrenergic receptor agonist and corticosteroid of Staphylococcus aureus-induced airway epithelial inflammatory mediator production.

J. Zahm, Malcolm W Johnson, O. Bajolet, 2006, American journal of physiology. Lung cellular and molecular physiology.

Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

A. Brice, P. Yu-Wai-Man, J. Pouget, 2015, Brain : a journal of neurology.

MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles

A. Chaussenot, S. Sacconi, S. Bannwarth, 2018, Neurology: Genetics.

Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability.

A. Chaussenot, S. Bannwarth, C. Rouzier, 2022, European journal of medical genetics.

A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs

A. Chaussenot, S. Bannwarth, B. Chabrol, 2019, Molecular genetics and metabolism reports.

C. Richelme, A. Chaussenot, S. Bannwarth, 2019, Journal of Human Genetics.

Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation.

A. Chaussenot, S. Bannwarth, B. Chabrol, 2017, Molecular genetics and metabolism.

Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9‐deficient mild myopathy

C. Richelme, A. Chaussenot, S. Sacconi, 2016, Muscle & nerve.

A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers

A. Chaussenot, S. Bannwarth, A. M. Paula, 2016, Neuromuscular Disorders.

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

A. Chaussenot, S. Bannwarth, J. Benoist, 2016, Biological Research.

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.

E. Génin, A. Brice, P. Yu-Wai-Man, 2016, Brain : a journal of neurology.

In vivo involvement of polymorphonuclear neutrophils in Leishmania infantum infection

F. Anjuère, K. Fragaki, B. Ferruà, 2001, BMC Microbiology.

Accumulation of amyloid precursor protein C-terminal fragments triggers mitochondrial structure, function, and mitophagy defects in Alzheimer’s disease models and human brains

L. Buée, J. Cazareth, I. Lauritzen, 2020, Acta Neuropathologica.

Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases

A. Chaussenot, S. Bannwarth, C. Rouzier, 2018, BMC Medical Genetics.

SLP2/prohibitins aggregates and instability of the PHB complex are key elements in CHCHD10S59L-related disease

S. Bannwarth, F. Lespinasse, S. Lacas‐Gervais, 2021, bioRxiv.

GAPDH Expression Predicts the Response to R-CHOP, the Tumor Metabolic Status, and the Response of DLBCL Patients to Metabolic Inhibitors.

B. Nadel, C. Copie-Bergman, T. Molina, 2019, Cell metabolism.

Targeting eIF5A Hypusination Prevents Anoxic Cell Death through Mitochondrial Silencing and Improves Kidney Transplant Outcome.

N. Melis, Amine Belaid, B. Mograbi, 2017, Journal of the American Society of Nephrology : JASN.

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.

E. Génin, A. Brice, P. Yu-Wai-Man, 2014, Brain : a journal of neurology.

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.

J. Pouget, V. Procaccio, A. Chaussenot, 2012, Brain : a journal of neurology.

The human MSH5 (MutSHomolog 5) protein localizes to mitochondria and protects the mitochondrial genome from oxidative damage.

A. Rötig, J. Ricci, S. Bannwarth, 2012, Mitochondrion.

Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases

J. Pouget, M. Soriani, A. Chaussenot, 2020, Human mutation.

A novel Leishmania infantum nuclear phosphoprotein Lepp12 which stimulates IL1-beta synthesis in THP-1 transfectants

B. Mograbi, K. Fragaki, B. Ferruà, 2003, BMC Microbiology.

Recombinant DNA-derived leishmania proteins: from the laboratory to the field.

K. Fragaki, J. Kubar, 2005, The Lancet. Infectious diseases.

C. Richelme, A. Chaussenot, S. Bannwarth, 2019, Journal of Human Genetics.

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Robert W. Taylor, J. Gagneur, E. Génin, 2016, American journal of human genetics.

Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

E. Génin, A. Brice, P. Yu-Wai-Man, 2015, Brain : a journal of neurology.

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

E. Génin, A. Brice, P. Yu-Wai-Man, 2015, Brain : a journal of neurology.

Reply : CHCHD 10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

E. Génin, A. Brice, P. Yu-Wai-Man, 2015 .

Reply : Is CHCHD 10 Pro 34 Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis ?

E. Génin, A. Brice, P. Yu-Wai-Man, 2015 .

Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

E. Génin, A. Brice, P. Yu-Wai-Man, 2014, Brain : a journal of neurology.

Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.

E. Génin, A. Brice, P. Yu-Wai-Man, 2014, Brain : a journal of neurology.

Reply : Are CHCHD 10 mutations indeed associated with familial amyotrophic lateral sclerosis ?

E. Génin, A. Brice, P. Yu-Wai-Man, 2014 .

Leishmania proteins derived from recombinant DNA: current status and next steps.

K. Fragaki, J. Kubar, 2006, Trends in parasitology.

Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort

C. Richelme, J. Pouget, A. Chaussenot, 2013, European Journal of Human Genetics.

A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene.

V. Procaccio, P. Potluri, S. Bannwarth, 2009, Mitochondrion.

Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.

N. Romero, P. Laforêt, A. Béhin, 2018, Revue neurologique.

Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.

D. Wallace, J. Gargus, P. Calvas, 2008, Mitochondrion.

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

A. Chaussenot, S. Bannwarth, J. Benoist, 2016, Biological Research.

A Novel Unstable Mutation in Mitochondrial DNA Responsible for Maternally Inherited Diabetes and Deafness

B. Vialettes, S. Bannwarth, R. Valéro, 2011, Diabetes Care.

CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability.

T. Wai, S. Bannwarth, F. Lespinasse, 2022, Brain : a journal of neurology.

Downregulation by a long-acting beta2-adrenergic receptor agonist and corticosteroid of Staphylococcus aureus-induced airway epithelial inflammatory mediator production.

J. Zahm, Malcolm W Johnson, O. Bajolet, 2006, American journal of physiology. Lung cellular and molecular physiology.

The human MSH5 (MutSHomolog 5) protein localizes to mitochondria and protects the mitochondrial genome from oxidative damage.

A. Rötig, J. Ricci, S. Bannwarth, 2012, Mitochondrion.

L. Faivre, C. Philippe, P. Gaignard, 2022, Mitochondrion.

Presence of anti-Lepp12 antibody: a marker for diagnostic and prognostic evaluation of visceral leishmaniasis.

Dhiraj Kumar, P. Salotra, Ruchi Singh, 2008, Transactions of the Royal Society of Tropical Medicine and Hygiene.

Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

P. Yu-Wai-Man, J. Pouget, I. Le Ber, 2015, Brain : a journal of neurology.

Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

E. Génin, A. Brice, P. Yu-Wai-Man, 2014, Brain : a journal of neurology.

Reply: MFN2 mutations cause compensatory mitochondrial DNA proliferation

J. Pouget, V. Procaccio, A. Chaussenot, 2012 .

Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency

A. Rötig, V. Desquiret-Dumas, V. Procaccio, 2012, European Journal of Human Genetics.