Institut de Neurosciences Cognitives et Intégratives d'Aquitaine (UMR5287)

Aquitaine Institute for Cognitive and Integrative Neuroscience



INCIA - UMR 5287- CNRS
Université de Bordeaux

Zone nord Bat 2 2ème étage
146, rue Léo Saignat
33076 Bordeaux cedex
France

Téléphone 05.57.57.15.51
Télécopie 05.56.90.14.21

Supervisory authorities

CNRS Ecole Pratique des Hautes Etudes Université de Bordeaux

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Durand Christelle

by NRGEN, Wolff - published on , updated on

IH, CHU Pellegrin

Contact:
christelle.durand@u-bordeaux.fr

Team:
Translational Research in Neurogenetic Diseases

Domain:
Human genetics
Translational research
- 

Research axis:

  • Genetic and physiopathological studies of Hereditary Spastic Paraplegia
  • Physiopathological studies of Neurodegeneration with brain iron accumulation (NBIA)

Technical expertise:

  • Cell culture
  • Molecular Biology
  • Biochemistry

Selected publications:

  • Durand CM, Angelini C, Michaud V, Delleci C, Coupry I, Goizet C, Trimouille A. Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia. BMC Neurol. 2022 Feb 12;22(1):53. doi: 10.1186/s12883-022-02553-0.
  • Legrand A, Pujol C, Durand CM, Mesnil A, Rubera I, Duranton C, Zuily S, Sousa AB, Renaud M, Boucher JL, Pietrancosta N, Adham S, Orssaud C, Marelli C, Casali C, Ziccardi L, Villain N, Ewenczyk C, Durr A, Mignot C, Stevanin G, Billon C, Hureaux M, Jeunemaitre X, Goizet C, Albuisson JPseudoxanthoma Elasticum overlaps Hereditary Spastic Paraplegia Type 56. J Intern Med. 2021 May;289(5):709-725.
  • Durand CM, Dhers L, Tesson C, Tessa A, Fouillen L, Jacquere S, Raymond L, Coupry I, Benard G, Darios F, El-Hachimi KH, Astrea G, Rivier F, Banneau G, Pujol C, Lacombe D, Durr A, Babin PJ, Santorelli FM, Pietrancosta N, Boucher JL, Mansuy D, Stevanin G*, Goizet C* (* equal contribution). CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. Hum Mut 2018, 39:140-151.
  • Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain 2015, 138: 2191-2205.
  • Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N’Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I. New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. Ann Neurol. 2015 Dec;78(6):871-86.
  • Leblond C, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, Ey E, Toro R, Peyre H, Mathieu A, Amsellem F, Rastam M, Gillberg I. C, Rappold G A, Holt R, Monaco AP, Maestrini E, Galan P, Heron D, Jacquette A, Afenjar A, Rastetter A, Brice A, Devillard F, Assouline B, Bonneau D, Regnault B, Zelenika D, Delepine M, Lathrop M, Sanlaville D, Schluth-Bolard C, Edery P, Schmeisser MJ, Boeckers T M, Coleman M, Sato D, Szatmari P, Scherer SW, Rouleau GA, Betancur C, Leboyer M, Gillberg C, Delorme R, BourgeronT. Genetic and clinical diversity of SHANK mutations in Autism Spectrum Disorders. PLoS Genet, Sep 4;10(9), 2014
  • Piguel NH, Fievre S, Blanc JM, Carta M, Moreau MM, Moutin E, Pinheiro VL, Medina C, Ezan J, Lasvaux L, Loll F, Durand CM, Chang K, Petralia RS, Wenthold RJ, Stephenson FA, Vuillard L, Darbon H, Perroy J, Mulle C, Montcouquiol M, Racca C, Sans N. Scribble1/AP2 complex coordinates NMDA receptor endocytic recycling. Cell Rep, Oct 23;9(2):712-27, 2014
  • Tesson C, Nawara M, Salih MAM, Rossignol R, Zaki M, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Caballero-Oteyza A, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, El Malik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G. Alteration of fatty acid-metabolizing enzymes affects mitochondrial functions in hereditary spastic paraplegia. Am J Hum Genet 2012, 91: 1051-1064.
  • Durand CM, Perroy J, Loll F, Fagni L, Bourgeron T, Montcouquiol M and Sans N. SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism. Mol Psychiatry, Jan;17(1):71-84, 2012.
  • Chaste P, Clement N, Botros HG, Guillaume JL, Konyukh M, Pagan C, Scheid I, Nygren G, Anckarsäter H, Rastam M, Ståhlberg O, Gillberg IC, Melke J, Delorme R, Leblond C, Toro R, Huguet G, Fauchereau F, Durand CM, Boudarene L, Serrano E, Lemière N, Launay JM, Leboyer M, Jockers R, Gillberg C, Bourgeron T.Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders. J Pineal Res, Nov;51(4):394-399, 2011.
  • Holt R, Barnby G, Maestrini E, Bacchelli E, Brocklebank D, Sousa I, Mulder EJ, Kantojärvi K, Järvelä I, Klauck SM, Poustka F, Bailey AJ, Monaco AP; EU Autism MOLGEN Consortium. Linkage and candidate gene studies of autism spectrum disorders in European populations. Eur J Hum Genet, Sep;18(9):1013-9, 2010.
  • Moreau MM, Piguel N, Papouin T, Koehl M, Durand CM, Rubio ME, Loll F, Richard EM, Mazzocco C, Racca C, Oliet SHR, Abrous DN, Montcouquiol M and Sans N. The Planar Polarity protein Scribble1 is essential for neuronal plasticity and brain function. J Neurosc, 30: 9738-9752, 2010.
  • Gong X, Bacchelli E, Blasi F, Toma C, Betancur C, Chaste P, Delorme R, Durand C M, Fauchereau F, Botros H G, Leboyer M, Mouren-Simeoni M C, Nygren G, Anckarsater H, Rastam M, Gillberg I C, Gillberg C, Moreno-De-Luca D, Carone S, Nummela I, Rossi M, Battaglia A, Jarvela I, Maestrini E, Bourgeron T. An investigation of ribosomal protein L10 gene in autism spectrum disorders. BMC Med Genet, 23 ;10(1) :7, 2009.
  • Gong X, Bacchelli E, Blasi F, Toma C, Betancur C, Chaste P, Delorme R, Durand CM, Fauchereau F, Botros HG, Leboyer M, Mouren-Simeoni MC, Nygren G, Anckarsäter H, Rastam M, Gillberg IC, Gillberg C, Moreno-De-Luca D, Carone S, Nummela I, Rossi M, Battaglia A; International Molecular Genetic Study of Autism Consortium (IMGSAC), Jarvela I, Maestrini E, Bourgeron T. Analysis of X chromosome inactivation in autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet, 5;147B(6):830-5, 2008.
  • Melke J, Goubran-Botros H, Chaste P, Betancur C, Nygren G, AnckarsäterH, Rastam M, Ståhlberg O, Gillberg IC, Delorme R, Chabane N, Mouren-Simeoni MC, Fauchereau F, Durand CM, Chevalier F, Drouot X, Collet C, Launay JM, Leboyer M, Gillberg C, and Bourgeron T. Abnormal Melatonin Synthesis in Autism Spectrum Disorders. Mol Psychiatry, 13(1):90-8, 2007.
  • Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, Nygren G, Rastam M, Gillberg IC, Anckarsater H, Sponheim E, Goubran-Botros H, Delorme R, Chabane N, Mouren-Simeoni MC, de Mas P, Bieth E, Roge B, Heron D, Burglen L, Gillberg C, Leboyer M, Bourgeron T. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet, 39(1):25-7, 2007.
  • Delorme R, Durand CM, Betancur C, Wagner M, Ruhrmann S, Grabe HJ, Nygren G, Gillberg C, Leboyer M, Bourgeron T, Courtet P, Jollant F, Buresi C, Aubry JM, Baud P, Bondolfi G, Bertschy G, Perroud N, Malafosse A. No human tryptophan hydroxylase-2 gene R441H mutation in a large cohort of psychiatric patients and control subjects. Biol Psychiatry, 15;60(2):202-3, 2006.
  • Durand CM, Kappeler C, Betancur C, Delorme R, Quach H, Goubran-Botros H, Melke J, Nygren G, Chabane N, Bellivier F, Szoke A, Schurhoff F, Rastam M, Anckarsäter H, Gillberg C, Leboyer M and Bourgeron T Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders. Am J Med Genet. B Neuropsychiatr Genet, 141, 67-70, 2006.
  • Delorme R, Betancur C, Wagner M, Krebs MO, Gorwood P, Pearl P, Nygren G, Durand CM, Buhtz F, Pickering P, Melke J, Ruhrmann S, Anckarsäter H, Chabane N, Kipman A, Reck C, Millet B, Roy I, Mouren-Simeoni MC, Maier W, Råstam M, Gillberg C, Leboyer M, and Bourgeron T. Support for the association between the serotonin transporter gene and susceptibility to obsessive compulsive disorder. Mol Psychiatry, 10, 1059-1061, 2005.