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    Equipe 1 - MitoLab - 2017

    Equipe 1 - MitoLab - 2017

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      Separated by coma
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    • 1.     Adjeroud N, Besnard J, Verny C, Prundean A, Scherer C, Gohier B, Bonneau D, Massioui NE, and Allain P. Dissociation between decision-making under risk and decision-making under ambiguity in premanifest and manifest Huntington's disease. Neuropsychologia 103: 87-95, 2017.
    • 2.     Aung T, Ozaki M, Lee MC, Schlotzer-Schrehardt U, Thorleifsson G, Mizoguchi T, Igo RP, Jr., Haripriya A, Williams SE, Astakhov YS, Orr AC, Burdon KP, Nakano S, Mori K, Abu-Amero K, Hauser M, Li Z, Prakadeeswari G, Bailey JNC, Cherecheanu AP, Kang JH, Nelson S, Hayashi K, Manabe SI, Kazama S, Zarnowski T, Inoue K, Irkec M, Coca-Prados M, Sugiyama K, Jarvela I, Schlottmann P, Lerner SF, Lamari H, Nilgun Y, Bikbov M, Park KH, Cha SC, Yamashiro K, Zenteno JC, Jonas JB, Kumar RS, Perera SA, Chan ASY, Kobakhidze N, George R, Vijaya L, Do T, Edward DP, de Juan Marcos L, Pakravan M, Moghimi S, Ideta R, Bach-Holm D, Kappelgaard P, Wirostko B, Thomas S, Gaston D, Bedard K, Greer WL, Yang Z, Chen X, Huang L, Sang J, Jia H, Jia L, Qiao C, Zhang H, Liu X, Zhao B, Wang YX, Xu L, Leruez S, Reynier P, Chichua G, Tabagari S, Uebe S, Zenkel M, Berner D, Mossbock G, Weisschuh N, Hoja U, Welge-Luessen UC, Mardin C, Founti P, Chatzikyriakidou A, Pappas T, Anastasopoulos E, Lambropoulos A, Ghosh A, Shetty R, Porporato N, Saravanan V, Venkatesh R, Shivkumar C, Kalpana N, Sarangapani S, Kanavi MR, Beni AN, Yazdani S, et al. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nat Genet 49: 993-1004, 2017.
    • 3.     Bakhchane A, Charif M, Bousfiha A, Boulouiz R, Nahili H, Rouba H, Charoute H, Lenaers G, and Barakat A. Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss. PLoS One 12: e0176516, 2017.
    • 4.     Berrou E, Adam F, Lebret M, Planche V, Fergelot P, Issertial O, Coupry I, Bordet JC, Nurden P, Bonneau D, Colin E, Goizet C, Rosa JP, and Bryckaert M. Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin alphaIIbbeta3 Activation. Arterioscler Thromb Vasc Biol 37: 1087-1097, 2017.
    • 5.     Blasco H, Veyrat-Durebex C, Bocca C, Patin F, Vourc'h P, Kouassi Nzoughet J, Lenaers G, Andres CR, Simard G, Corcia P, and Reynier P. Lipidomics Reveals Cerebrospinal-Fluid Signatures of ALS. Sci Rep 7: 17652, 2017.
    • 6.     Boucret L, Bris C, Seegers V, Goudenege D, Desquiret-Dumas V, Domin-Bernhard M, Ferre-L'Hotellier V, Bouet PE, Descamps P, Reynier P, Procaccio V, and May-Panloup P. Deep sequencing shows that oocytes are not prone to accumulate mtDNA heteroplasmic mutations during ovarian ageing. Hum Reprod 32: 2101-2109, 2017.
    • 7.     Boueilh T, Bassi C, Rouleau S, Le Crugel S, Moal V, Boux de Casson F, Coutant R, Mirebeau-Prunier D, Reynier P, and Homedan C. Pituitary stalk interruption syndrome: a rare and severe cause of pituitary deficiency Laboratory diagnosis of a newborn case. Ann Biol Clin (Paris) 75: 215-221, 2017.
    • 8.     Bousfiha A, Bakhchane A, Charoute H, Detsouli M, Rouba H, Charif M, Lenaers G, and Barakat A. Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family. Mol Biol Rep 44: 429-434, 2017.
    • 9.     Bris C, Rouaud T, Desquiret-Dumas V, Gueguen N, Goudenege D, Barth M, Bonneau D, Amati-Bonneau P, Lenaers G, Reynier P, Lebre AS, and Procaccio V. Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia. Neurol Genet 3: e205, 2017.
    • 10.     Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Muller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Bene MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, and Bahram S. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. J Clin Invest 127: 4090-4103, 2017.
    • 11.     Cassereau J, Ferre M, Chevrollier A, Codron P, Verny C, Homedan C, Lenaers G, Procaccio V, May-Panloup P, and Reynier P. Neurotoxicity of Insecticides. Curr Med Chem 24: 2988-3001, 2017.
    • 12.     Chao de la Barca JM, Simard G, Sarzi E, Chaumette T, Rousseau G, Chupin S, Gadras C, Tessier L, Ferre M, Chevrollier A, Desquiret-Dumas V, Gueguen N, Leruez S, Verny C, Milea D, Bonneau D, Amati-Bonneau P, Procaccio V, Hamel C, Lenaers G, Reynier P, and Prunier-Mirebeau D. Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice. Invest Ophthalmol Vis Sci 58: 812-820, 2017.
    • 13.     Codron P, Cousin M, Subra JF, Pautot V, Letournel F, Verny C, and Cassereau J. Therapeutic plasma exchange in chronic dysimmune peripheral neuropathies: A 10-year retrospective study. J Clin Apher 32: 413-422, 2017.
    • 14.     de la Barca JMC, Boueilh T, Simard G, Boucret L, Ferre-L'Hotellier V, Tessier L, Gadras C, Bouet PE, Descamps P, Procaccio V, Reynier P, and May-Panloup P. Targeted metabolomics reveals reduced levels of polyunsaturated choline plasmalogens and a smaller dimethylarginine/arginine ratio in the follicular fluid of patients with a diminished ovarian reserve. Hum Reprod 32: 2269-2278, 2017.
    • 15.     de la Barca JMC, Huang NT, Jiao H, Tessier L, Gadras C, Simard G, Natoli R, Tcherkez G, Reynier P, and Valter K. Retinal metabolic events in preconditioning light stress as revealed by wide-spectrum targeted metabolomics. Metabolomics 13: 22, 2017.
    • 16.     Del Dotto V, Mishra P, Vidoni S, Fogazza M, Maresca A, Caporali L, McCaffery JM, Cappelletti M, Baruffini E, Lenaers G, Chan D, Rugolo M, Carelli V, and Zanna C. OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions. Cell Rep 19: 2557-2571, 2017.
    • 17.     Delmont E, Hiew FL, Cassereau J, Aube-Nathier AC, Grapperon AM, Attarian S, and Rajabally YA. Determinants of health-related quality of life in anti-MAG neuropathy: a cross-sectional multicentre European study. J Peripher Nerv Syst 22: 27-33, 2017.
    • 18.     Desquiret-Dumas V, Clement A, Seegers V, Boucret L, Ferre-L'Hotellier V, Bouet PE, Descamps P, Procaccio V, Reynier P, and May-Panloup P. The mitochondrial DNA content of cumulus granulosa cells is linked to embryo quality. Hum Reprod 32: 607-614, 2017.
    • 19.     Frey S, Geffroy G, Desquiret-Dumas V, Gueguen N, Bris C, Belal S, Amati-Bonneau P, Chevrollier A, Barth M, Henrion D, Lenaers G, Bonneau D, Reynier P, and Procaccio V. The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model. Biochim Biophys Acta 1863: 284-291, 2017.
    • 20.     Gaura V, Lavisse S, Payoux P, Goldman S, Verny C, Krystkowiak P, Damier P, Supiot F, Bachoud-Levi AC, and Remy P. Association Between Motor Symptoms and Brain Metabolism in Early Huntington Disease. JAMA Neurol 74: 1088-1096, 2017.
    • 21.     Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane MS, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, and Lenaers G. Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission. Brain 140: 2586-2596, 2017.
    • 22.     Gonzalez S, Berthelot J, Jiner J, Perrin-Tricaud C, Fernando R, Chrast R, Lenaers G, and Tricaud N. Blocking mitochondrial calcium release in Schwann cells prevents demyelinating neuropathies. J Clin Invest 127: 1115, 2017.
    • 23.     Grimaux X, Ayoubi RE, Rabin M, Martin L, Bonneau D, Bouyx F, Blanchard E, Croue A, and Breton Q. [An atypical case of lipoid proteinosis]. Ann Pathol 37: 425-428, 2017.
    • 24.     Kane MS, Alban J, Desquiret-Dumas V, Gueguen N, Ishak L, Ferre M, Amati-Bonneau P, Procaccio V, Bonneau D, Lenaers G, Reynier P, and Chevrollier A. Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy. J Cell Mol Med 21: 2284-2297, 2017.
    • 25.     Kane MS, Paris A, Codron P, Cassereau J, Procaccio V, Lenaers G, Reynier P, and Chevrollier A. Current mechanistic insights into the CCCP-induced cell survival response. Biochem Pharmacol 148: 100-110, 2017.
    • 26.     Kerbrat P, Desmoulins I, Roca L, Levy C, Lortholary A, Marre A, Delva R, Rios M, Viens P, Brain E, Serin D, Edel M, Debled M, Campone M, Mourret-Reynier MA, Bachelot T, Foucher-Goudier MJ, Asselain B, Lemonnier J, Martin AL, and Roche H. Optimal duration of adjuvant chemotherapy for high-risk node-negative (N-) breast cancer patients: 6-year results of the prospective randomised multicentre phase III UNICANCER-PACS 05 trial (UCBG-0106). Eur J Cancer 79: 166-175, 2017.
    • 27.     Kouassi Nzoughet J, Bocca C, Simard G, Prunier-Mirebeau D, Chao de la Barca JM, Bonneau D, Procaccio V, Prunier F, Lenaers G, and Reynier P. A Nontargeted UHPLC-HRMS Metabolomics Pipeline for Metabolite Identification: Application to Cardiac Remote Ischemic Preconditioning. Anal Chem 89: 2138-2146, 2017.
    • 28.     Kury S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denomme-Pichon AS, Lesca G, Sellars EA, Berg J, Carre W, Busk OL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla OL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers L, Boisseau P, Vincent M, Grabrucker AM, Dubourg C, Undiagnosed Diseases N, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogne B, Gem H, Deciphering Developmental Disorders S, Petrovski S, Retterer K, et al. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet 101: 768-788, 2017.
    • 29.     Legendre M, Abadie V, Attie-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Genevieve D, Leheup B, Odent S, Jouk PS, Mercier S, Faivre L, Vincent-Delorme C, Francannet C, Naudion S, Mathieu-Dramard M, Delrue MA, Goldenberg A, Heron D, Parent P, Touraine R, Layet V, Sanlaville D, Quelin C, Moutton S, Fradin M, Jacquette A, Sigaudy S, Pinson L, Sarda P, Guerrot AM, Rossi M, Masurel-Paulet A, El Chehadeh S, Piguel X, Rodriguez-Ballesteros M, Ragot S, Lyonnet S, Bilan F, and Gilbert-Dussardier B. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. Am J Med Genet C Semin Med Genet 175: 417-430, 2017.
    • 30.     Lessel D, Schob C, Kury S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogne B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J, study DDD, Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K, Group CRR, Brunner HG, Elpeleg O, Mercier S, Bezieau S, Kubisch C, Kleefstra T, Kindler S, Lupski JR, and Kreienkamp HJ. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet 101: 716-724, 2017.
    • 31.     Loo JL, Singhal S, Rukmini AV, Tow S, Amati-Bonneau P, Procaccio V, Bonneau D, Gooley JJ, Reynier P, Ferre M, and Milea D. Multiethnic involvement in autosomal-dominant optic atrophy in Singapore. Eye (Lond) 31: 475-480, 2017.
    • 32.     Mercati O, Huguet G, Danckaert A, Andre-Leroux G, Maruani A, Bellinzoni M, Rolland T, Gouder L, Mathieu A, Buratti J, Amsellem F, Benabou M, Van-Gils J, Beggiato A, Konyukh M, Bourgeois JP, Gazzellone MJ, Yuen RK, Walker S, Delepine M, Boland A, Regnault B, Francois M, Van Den Abbeele T, Mosca-Boidron AL, Faivre L, Shimoda Y, Watanabe K, Bonneau D, Rastam M, Leboyer M, Scherer SW, Gillberg C, Delorme R, Cloez-Tayarani I, and Bourgeron T. CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders. Mol Psychiatry 22: 625-633, 2017.
    • 33.     Poli C, Augusto JF, Dauve J, Adam C, Preisser L, Larochette V, Pignon P, Savina A, Blanchard S, Subra JF, Chevailler A, Procaccio V, Croue A, Creminon C, Morel A, Delneste Y, Fickenscher H, and Jeannin P. IL-26 Confers Proinflammatory Properties to Extracellular DNA. J Immunol 198: 3650-3661, 2017.
    • 34.     Prunier F, Reynier P, and Mirebeau-Prunier D. Letter in response to remote ischaemic conditioning provides humoral cross-species cardioprotection through glycine receptor activation. Cardiovasc Res 113: 562, 2017.
    • 35.     Rousseau G, Signolet I, Denis MC, Chao de la Barca JM, Mahieu R, Letournel F, Reynier P, and Simard G. 5-Oxoprolinuria in hyperammonemic encephalopathy: Coincidence or worsening factor? Clin Biochem 50: 1115-1117, 2017.
    • 36.     Salime S, Charif M, Bousfiha A, Elrharchi S, Bakhchane A, Charoute H, Kabine M, Snoussi K, Lenaers G, and Barakat A. Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families. Int J Pediatr Otorhinolaryngol 101: 25-29, 2017.
    • 37.     Sarzi E, Seveno M, Angebault C, Milea D, Ronnback C, Quiles M, Adrian M, Grenier J, Caignard A, Lacroux A, Lavergne C, Reynier P, Larsen M, Hamel CP, Delettre C, Lenaers G, and Muller A. Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy. Hum Mol Genet 26: 4764, 2017.
    • 38.     Sonney S, Leipzig J, Lott MT, Zhang S, Procaccio V, Wallace DC, and Sondheimer N. Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP. PLoS Comput Biol 13: e1005867, 2017.
    • 39.     Verny C, Bachoud-Levi AC, Durr A, Goizet C, Azulay JP, Simonin C, Tranchant C, Calvas F, Krystkowiak P, Charles P, Youssov K, Scherer C, Prundean A, Olivier A, Reynier P, Saudou F, Maison P, Allain P, von Studnitz E, Bonneau D, and Group C-HS. A randomized, double-blind, placebo-controlled trial evaluating cysteamine in Huntington's disease. Mov Disord 32: 932-936, 2017.
    • 40.     Wakim J, Goudenege D, Perrot R, Gueguen N, Desquiret-Dumas V, Chao de la Barca JM, Dalla Rosa I, Manero F, Le Mao M, Chupin S, Chevrollier A, Procaccio V, Bonneau D, Logan DC, Reynier P, Lenaers G, and Khiati S. CLUH couples mitochondrial distribution to the energetic and metabolic status. J Cell Sci 130: 1940-1951, 2017.
    • 41.     Zein S, Francis Z, Montarou G, Chandez F, Kane MS, and Chevrollier A. Microdosimetry in 3D realistic mitochondria phantoms: Geant4 Monte Carlo tracking of 250keV photons in phantoms reconstructed from microscopic images. Phys Med 42: 7-12, 2017.
    • 42.     Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denomme-Pichon AS, Charif M, Besnard T, Bezieau S, Cogne B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, and Stankiewicz P. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet 136: 377-386, 2017.