The Team
  • Researchers

    Christel DEPIENNE

    Jean-Louis MANDEL

    Hervé MOINE

    Amélie PITON

  • Post-Doctoral Fellows

    Florent COLIN

    Andréa GEOFFROY

  • Phd Students

    Francesca MATTIOLI

    Angélique QUARTIER

  • Engineers & Technicians

    Eric FLATTER

  • Ingenieur Informaticien

    Timothée MAZZUCOTELLI

Translational medicine and neurogenetics

Genetic mechanisms of neurodevelopmental disorders

Mental retardation (MR), defined as major deficits in cognitive functions manifesting early in life, originates from highly heterogeneous causes, that prominently include single gene mutations. We study several of these genes trying to decipher their function at the molecular, cellular and central nervous system level, as well as the conse-quence of their deficit in neurons and on cognitive functions in the mouse. We study the FMR1 gene mutated in the Fragile X MR syndrome, the most common cause of inherited MR, as well as two protein-kinase encoding genes, RSK2 and PAK3, responsible for X linked forms of syndromic (Coffin-Lowry) or non-syndromic MR. We are also involved in genetic studies of the Bardet-Biedl syndrome, a pleiotropic ciliopathy, and in genetic diagnosis applications related to MR. Our FMR1 studies focus on the processes involved in mRNA transport and local translation in dendrites that appear important for synaptic plasticity. Another focus is the role of signal transduction pathways that include RSK kinases and PAK kinases and their role in regulation of neurotransmission and in synaptic plasticity. Knowledge of the precise functions of these proteins will contribute to the better understanding of molecular pathomechanisms leading to MR and may open paths towards better treatments.

  • Current projects

  • Collaborations

  • Prizes/Awards

    • Ricardos Tabet - Young Researcher Prize – Jérôme Lejeune - Fondation Jérôme Lejeune - 2015
    • Jean-Louis MANDEL - Scientific Prize - Académie Nationale de Médecine - 2009
    • Jean-Louis MANDEL - Chevalier of the Legion of Honour - Etat français - 2008
    • Jean-Louis MANDEL - Grand Prize - Fondation pour la Recherche Médicale (FRM) - 2006
    • Jean-Louis MANDEL - Professor at the College of France - Collège de France - 2004
    • Jean-Louis MANDEL - Neuronal Plasticity Prize - Fondation IPSEN - 2004
    • Jean-Louis MANDEL - Neuronal Plasticity prize - Fondation Ipsen pour la recherche thérapeutique - 2004
    • Jean-Louis MANDEL - Klaus Joachim Zülch prize for research in neurology - Foundation Reemtsma / Max Planck Society - 2001
    • André HANAUER - Montyon Prize - Institut de France de l'Académie des Sciences - 2000
    • Jean-Louis MANDEL - Member of the French Academy of science - Académie des sciences - 1999
    • Jean-Louis MANDEL - Louis-Jeantet medicine prize - Fondation Louis-Jeantet - 1999
    • Jean-Louis MANDEL - Mauro Baschirotto prize - Société Européenne de Génétique Humaine - 1998
    • Jean-Louis MANDEL - Richard Lounsbery Prize - Académie des sciences (France) / National Academy of Sciences (États-Unis) - 1994
    • Jean-Louis MANDEL - San Remo International prize for genetic research - Société Italienne de Génétique Humaine - 1992
    • Jean-Louis MANDEL - GPA Foundation prize - Académie des sciences - 1988
    • Jean-Louis MANDEL - Member of the European Molecular Biology Organization (EMBO) - European Molecular Biology Organization (EMBO) - 1982
  • News

  • Publications

    • Fragile X syndrome: Are signaling lipids the missing culprits?

      Tabet R(1), Vitale N(2), Moine H(3).

      Biochimie Sept. 3, 2016 .

    • ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

      Mignot C(1), Moutard ML(2), Rastetter A(3), Boutaud L(4), Heide S(5), Billette T(2), Doummar D(2), Garel C(6), Afenjar A(1), Jacquette A(1), Lacombe D(7), Verloes A(8), Bole-Feysot C(9), Nitschké P(10), Masson C(10), Faudet A(1), Lesne F(1), Bienvenu T(11), Alby C(4), Attié-Bitach T(4), Depienne C(12), Nava C(5), Héron D(13).

      Brain July 29, 2016 .

    • Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.

      Renaud M(1,)(2,)(3), Guissart C(4), Mallaret M(2,)(3,)(5), Ferdinandusse S(6), Cheillan D(7), Drouot N(2), Muller J(2,)(3,)(8,)(9), Claustres M(4), Tranchant C(1,)(2,)(3), Anheim M(1,)(2,)(3), Koenig M(10).

      J Neurol May 26, 2016 ; 263:1552-1558 .

    • A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.

      Masurel-Paulet A(1,)(2), Piton A(3,)(4), Chancenotte S(5), Redin C(3,)(4), Thauvin-Robinet C(1,)(2), Henrenger Y(4), Minot D(1), Creppy A(3,)(4), Ruffier-Bourdet M(5), Thevenon J(1,)(2), Kuentz P(2), Lehalle D(1), Curie A(6), Blanchard G(6), Ghosn E(7), Bonnet M(5), Archimbaud-Devilliers M(5), Huet F(1,)(2), Perret O(8), Philip N(8), Mandel JL(3,)(4), Faivre L(1,)(2).

      Am J Med Genet A June 3, 2016 ; 170:2103-2110 .

    • Expanding the Phenotype Associated with NAA10 Related N-terminal Acetylation Deficiency.

      Saunier C(1,)(2), Støve SI(3,)(4), Popp B(5), Gérard B(6), Blenski M(3), AhMew N(7), de Bie C(8), Goldenberg P(9), Isidor B(10,)(11), Keren B(12,)(13), Leheup B(14), Lampert L(14), Mignot C(15), Tezcan K(16), Mancini GM(17), Nava C(12,)(13), Wasserstein M(18), Bruel AL(19,)(20), Thevenon J(1,)(19,)(20), Masurel A(1,)(19), Duffourd Y(19,)(20), Kuentz P(19,)(20), Huet F(2,)(19,)(20), Rivière JB(19,)(20,)(21), van Slegtenhorst M(17), Faivre L(1,)(19,)(20), Piton A(6), Reis A(5), Arnesen T(3,)(4), Thauvin-Robinet C(1,)(19,)(20), Zweier C(5).

      Hum Mutat April 20, 2016 ; 37:755-64 .

    • Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

      Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S.

      Neurology May 6, 2016 ; 86:2171-8 .

    • Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.

      Mattioli F(1), Piton A(1,)(2), Gérard B(2), Superti-Furga A(3), Mandel JL(1,)(2,)(4), Unger S(5).

      Am J Med Genet A April 7, 2016 ; 170:1626-9 .

    • Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.

      Mallaret M(1,)(2,)(3), Renaud M(2,)(3,)(4), Redin C(2), Drouot N(2), Muller J(2,)(5), Severac F(6), Mandel JL(2,)(5,)(7), Hamza W(8), Benhassine T(8), Ali-Pacha L(9), Tazir M(9,)(10), Durr A(11,)(12), Monin ML(13), Mignot C(13), Charles P(14), Van Maldergem L(15), Chamard L(16), Thauvin-Robinet C(17), Laugel V(18), Burglen L(19), Calvas P(20), Fleury MC(3), Tranchant C(2,)(3,)(4), Anheim M(21,)(22,)(23), Koenig M(24).

      J Neurol Jul 2016 ; 263:1314-22 .

    • The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

      Schönewolf-Greulich B(1,)(2), Tejada MI(3), Stephens K(4), Hadzsiev K(5), Gauthier J(6), Brøndum-Nielsen K(7), Pfundt R(8), Ravn K(7), Maortua H(3), Gener B(3), Martínez-Bouzas C(3), Piton A(9,)(10), Rouleau G(11), Clayton-Smith J(4), Kleefstra T(8), Bisgaard AM(1), Tümer Z(2).

      Clin Genet Jun 2016 ; 89:733-8 .

    • High-throughput discovery of novel developmental phenotypes.

      Dickinson ME(1), Flenniken AM(2,)(3), Ji X(4), Teboul L(5), Wong MD(2,)(6), White JK(7), Meehan TF(8), Weninger WJ(9), Westerberg H(5), Adissu H(2,)(10), Baker CN(11), Bower L(12), Brown JM(5), Caddle LB(11), Chiani F(13), Clary D(12), Cleak J(5), Daly MJ(14,)(15), Denegre JM(11), Doe B(7), Dolan ME(11), Edie SM(11), Fuchs H(16), Gailus-Durner V(16), Galli A(7), Gambadoro A(13), Gallegos J(17), Guo S(18), Horner NR(5), Hsu CW(1), Johnson SJ(5), Kalaga S(1), Keith LC(1), Lanoue L(12), Lawson TN(5), Lek M(14,)(15), Mark M(19), Marschall S(16), Mason J(8), McElwee ML(1), Newbigging S(2,)(10), Nutter LM(2,)(10), Peterson KA(11), Ramirez-Solis R(7), Rowland DJ(12), Ryder E(7), Samocha KE(14,)(15), Seavitt JR(17), Selloum M(19), Szoke-Kovacs Z(5), Tamura M(20), Trainor AG(12), Tudose I(8), Wakana S(20), Warren J(8), Wendling O(19), West DB(21), Wong L(1), Yoshiki A(20); International Mouse Phenotyping Consortium; Jackson Laboratory; Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource Center, MacArthur DG(14,)(15), Tocchini-Valentini GP(13), Gao X(18), Flicek P(8), Bradley A(7), Skarnes WC(7), Justice MJ(10,)(17), Parkinson HE(8), Moore M(22), Wells S(5), Braun RE(11), Svenson KL(11), de Angelis MH(16,)(23,)(24), Herault Y(19), Mohun T(25), Mallon AM(5), Henkelman RM(2,)(6), Brown SD(5), Adams DJ(7), Lloyd KC(12), McKerlie C(2,)(10), Beaudet AL(17), Bu?an M(26), Murray SA(11).

      Nature Sept. 14, 2016 .

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