Publications

Bris C, Goudenège D, Desquiret-Dumas V, Gueguen N, Bannwarth S, Gaignard P, Rucheton B, Trimouille A, Allouche S, Rouzier C, Saadi S, Jardel C, Slama A, Barth M, Verny C, Spinazzi M, Cassereau J, Colin E, Armelle M, Pereon Y, Martin-Negrier ML, Paquis-Flucklinger V, Letournel F, Lenaers G, Bonneau D, Reynier P, Amati-Bonneau P, Procaccio V. Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders. Genet Med. 2021 May 26. Epub ahead of print.

Rucheton B, Ader F, Goudenege D, Filaut S, Legrand L, Bloch A, MitoDiag R, Fressart V, Bonnefont-Rousselot D, Mochel F, Lamari F, Richard P, Procaccio V, Bannwarth S. Intérêt du séquençage combiné du génome mitochondrial et d’un panel ciblé de gènes nucléaires impliqués dans les maladies mitochondriales [Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases]. Ann Biol Clin (Paris). 2021 Feb 1;79(1):28-40.

Baek M, Choe Y-J, Bannwarth S, Kim J, Maitra S, Dorn II GW, Taylor JP, Paquis-Flucklinger V, Kim NC. Dominant toxicity of ALS–FTD-associated CHCHD10^S59L is mediated by TDP-43 and PINK1. Nat Com, 2021; 74: 20-38.

Ferreira CR, Rahman S, Keller M, Zschocke J, ICIMD Advisory Group. An international classification of inherited metabolic disorders (ICIMD). J Inherit Metab Dis, 2021; 44 :164-177.

Labory J, Fierville M, Ait-El-Mkadem S, Bannwarth S, Paquis-Flucklinger V^* and Bottini S^* (*co-last authors).   Multi-Omics approaches to improve mitochondrial disease diagnosis: challenges, advances and perspectives. Frontiers in Molecular Biology, 2020; Nov 2; 7:590842. 

Vaillant-Beuchot L, Mary A, Pardossi-Piquard R, Bourgeois A, Lauritzen I, Eysert F, Kinoshita PF, Cazareth J, Badot C, Fragaki K, Bussiere R, Martin C, Mary R, Bauer C, Pagnotta S, Paquis-Flucklinger V, Buée-Scherrer V, Buée L, Lacas-Gervais S, Checler F, Chami M. Accumulation of amyloid precursor protein C-terminal fragments triggers mitochondrial structure, function, and mitophagy defects in Alzheimer’s disease models and human brains. Acta Neuropathol, 2020 Oct 20. doi: 10.1007/s00401-020-02234-7.

Decoux-Poullot AG, Bannwarth S, Procaccio V, Lebre AS, Jardel C, Vialettes B, Paquis-Flucklinger V, Chevalier N. Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations. Ann Endocrinol (Paris), 2020; 81:68-77.

Zereg E, Chaussenot A, Morel G, Bannwarth S, Sacconi S, Soriani MH, Attarian S, Cano A, Pouget J, Bellance R, Tranchant C, Lannes B, de Paula AM, Saadi Ait-El-Mkadem S, Chafino B, Berthet M, Fragaki K, Paquis-Flucklinger V*, Rouzier C* (*co-last authors). Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases. Hum Mutat, 2020; 41:1394-1406.

Goudenège D, Bris C, Hoffmann V, Desquiret-Dumas V, Jardel C, Rucheton B, Bannwarth S, Paquis-Flucklinger V, Lebre AS, Colin E, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Procaccio V. eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data. Genet Med, 2019; 21:1407-1416.

Belmonte FR, Dedousis N, Sipula I, Desai NA, Singhi AD, Chu Y, Zhang Y, Bannwarth S, Paquis-Flucklinger V, Harrington L, Shiva S, Jurczak MJ, O’Doherty RM, Kaufman BA. Petite Integration Factor 1 (PIF1) helicase deficiency increases weight gain in Western diet-fed female mice without increased inflammatory markers or decreased glucose clearance. PLoS One, 2019 ; 14(5):e0203101.

Fragaki K, Chaussenot A, Serre V, Acquaviva C, Bannwarth S, Rouzier C, Chabrol B, Paquis-Flucklinger V. 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. Mol Genet Metab Rep, 2019; 21:100543.

FRouzier C, Chaussenot A, Fragaki K, Serre V, Ait-El-Mkadem S, Richelme C, Paquis-Flucklinger V, Bannwarth S. NDUFS6 related Leigh syndrome : a case report and review of the literature. J Hum Genet, 2019 Apr 4. doi: 10.1038/s10038-019-0594-4.

Genin EC, Madji Hounoum B, Bannwarth S, Fragaki K, Lacas-Gervais S, Mauri-Crouzet A, Lespinasse F, Neveu J, Ropert B, Augé G, Cochaud C, Lefebvre-Omar C, Bigou S, Chiot A, Mochel F, Boillée S, Lobsiger CS, Bohl D, Ricci JE, Paquis-Flucklinger. Mitochondrial defect in muscle precedes neuromuscular junction degradation and motor neuron death in CHCHD10^S59L/+ mouse. Acta Neuropathol, 2019; 138:123-145.

Chiche J, Reverso-Meinietti J, Mouchotte A, Rubio-Patiño C, Mhaidly R, Villa E, Bossowski JP, Proics E, Grima-Reyes M, Paquet A, Fragaki K, Marchetti S, Briere J, Ambrosetti D, Michiels JF, Molina TJ, Copie-Bergman C, Lehmann-Che J, Peyrottes I, Peyrade F, de Kerviler E, Taillan B, Garnier G, Verhoeyen E, Paquis-Flucklinger V, Shintu L, Delwail V, Delpech-Debiais C, Delarue R, Bosly A, Petrella T, Brisou G, Nadel B, Barbry P, Mounier N, Thieblemont C, Ricci JE. GAPDH Expression Predicts the Response to R-CHOP, the Tumor Metabolic Status, and the Response of DLBCL Patients to Metabolic Inhibitors. Cell Metab, 2019 ; Feb 26. pii: S1550-4131(19)30066-X.

Hofman P, Ayache N, Barbry P, Barlaud M, Bel A, Blancou P, Checler F, Chevillard S, Cristofari G, Demory M, Esnault V, Falandry C, Gilson E, Guérin O, Glaichenhaus N, Guigay J, Ilié M, Mari B, Marquette CH, Paquis-Flucklinger V, Prate F, Saintigny P, Seitz-Polsky B, Skhiri T, Van Obberghen-Schilling E, Van Obberghen E, Yvan-Charvet L. The OncoAge Consortium: Linking Aging and Oncology from Bench to Bedside and Back Again. Cancers, 2019 Feb 21;11(2). pii: E250.

Kaphan E, Bou Ali H, Gastaldi M, Acquaviva C, Vianey-Saban C, Rouzier C, Fragaki K, Bannwarth S, Paquis-Flucklinger V, Romero N, Behin A, Lombès A, Jardel C, Rigal O, Laforêt P. Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency. Rev Neurol, 2018 ; 174:731-735.

Genin EC, Bannwarth S, Lespinasse F, Ortega-Vila B, Fragaki K, Itoh K, Villa E, Lacas-Gervais S, Jokela M, Auranen M, Ylikallio E, Mauri-Crouzet A, Tyynismaa H, Vihola A, Augé G, Cochaud C, Sesaki H, Ricci JE, Udd B, Vives-Bauza C, Paquis-Flucklinger V. Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases. Neurobiol Dis, 2018; 119:159-171.

Chaussenot A, Rouzier C, Fragaki K, Sacconi S, Ait-El-Mkadem S, Paquis-Flucklinger V*, Bannwarth S* (*co-corresponding authors). MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles. Neurol Genet, 2018; 4:e268.

Plutino M, Chaussenot A, Rouzier C, Ait-El-Mkadem S, Fragaki K, Paquis-Flucklinger V, Bannwarth S. Targeted next generation sequencing with an extended gene panel does not impact detection in mitochondrial diseases. BMC Med Genet, 2018; 19:57.

Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG. Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia. Hum Mutat, 2017; 38:764-777.

Fragaki K, Chaussenot A, Boutron A, Bannwarth S, Cochaud C, Richelme C, Sacconi S, Paquis-Flucklinger V. Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy. Muscle Nerve, 2017; 55:919-922.

Fragaki K, Chaussenot A, Boutron A, Bannwarth S, Rouzier C, Chabrol B, Paquis-Flucklinger V. Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation. Mol Genet Metab, 2017; 121:224-226.

Rouzier C, Moore D, Delorme C, Lacas-Gervais S, Ait-El-Mkadem S, Fragaki K, Burté F, Serre V, Bannwarth S, Chaussenot A, Catala M, Yu-Wai-Man P, Paquis-Flucklinger V. A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. Hum Mol Genet, 2017; 26:1599-1611.

Ait-El-Mkadem S, Dayem-Quere M,Mirjana Gusic M,Chaussenot A,Bannwarth S, François B, Genin E.C, Fragaki K,Volker-Touw C, Vasnier C,Valérie Serre S, van Gassen K.L.I, Lespinasse F, Richter S,Eisenhofer G,Rouzier C,Mochel F,De Saint-Martin A,Abi Warde MT,de Sain M, Judith Jans J, van Hasselt P,Amiel J,Avsec Z,Mertes C,Haack T.B,Strom T,Meitinger T,Bonnen P.E,Taylor R.W,Gagneur J,Rötig A,Delahodde A,Prokisch H,Fuchs S,Paquis-Flucklinger V. Mutations in MDH2, encoding a Krebs cycle enzyme, cause early-onset severe encephalopathy. Am J Hum Genet, 2017; 100:151-159.