Scientific publications

Publications

• 2018

  • Article in a journal

    Translating molecular advances in Down syndrome and Fragile X syndrome into therapies

    • Victor Faundez
    • Ilario de Toma
    • Barbara Bardoni
    • Renata Bartesaghi
    • Dean Nizetic
    • Rafael de la Torre
    • Roi Cohen Kadosh
    • Yann Hérault
    • Mara Dierssen
    • Marie-Claude Potier
    • Stylianos Antonarakis
    • Renata Bartesaghi
    • Andrea Contestabile
    • Tonnie Coppus
    • Peter de Deyn
    • Alain Dekker
    • Jean-Maurice Delabar
    • Mara Dierssen
    • Elisabeth Fisher
    • Yann Hérault
    • ...

    European Neuropsychopharmacology ; Volume: 28 ; Page: 675--690

    HAL DOI

  • Article in a journal

    Glycogen synthase protects neurons from cytotoxicity of mutant huntingtin by enhancing the autophagy flux

    • A Rai
    • Pankaj Kumar Singh
    • V Singh
    • V Kumar
    • R Mishra
    • A Thakur
    • A Mahadevan
    • S Shankar
    • N Jana
    • S Ganesh

    Cell Death and Disease ; Volume: 9

    HAL DOI

  • Article in a journal

    Tautomeric G•U pairs within the molecular ribosomal grip and fidelity of decoding in bacteria

    • Alexey Rozov
    • Philippe Wolff
    • Henri Grosjean
    • Marat Yusupov
    • Gulnara Yusupova
    • Eric Westhof

    Nucleic Acids Research ; Volume: 46 ; Page: 7425-7435

    HAL DOI

  • Article in a journal

    Chaperonin CCT checkpoint function in basal transcription factor TFIID assembly

    • Simona V. Antonova
    • Matthias Haffke
    • Eleonora Corradini
    • Mykolas Mikuciunas
    • Teck Y. Low
    • Luca Signor
    • Robert M. van Es
    • Kapil Gupta
    • Elisabeth Scheer
    • Harmjan R. Vos
    • László Tora
    • Albert J. R. Heck
    • H. T. Marc Timmers
    • Imre Berger

    Nature Structural and Molecular Biology ; Volume: 25 ; Page: 1119-1127

    HAL DOI

  • Article in a journal

    Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations

    • G Rubboli
    • G Plazzi
    • F Picard
    • L Nobili
    • Edouard Hirsch
    • Jameleddine Chelly
    • R Prayson
    • J Boutonnat
    • M Bramerio
    • P Kahane
    • L Dibbens
    • E Gardella
    • S Baulac
    • R Moller

    Annals of Clinical and Translational Neurology ; Volume: 6 ; Page: 386-391

    HAL DOI

  • Article in a journal

    When and how to use next generation sequencing? Which role for the clinician?

    • Christine Tranchant

    Revue Neurologique ; Volume: 174 ; Page: 275-277

    HAL DOI

  • Article in a journal

    Structural Basis of Outstanding Multivalent Effects in Jack Bean α-Mannosidase Inhibition

    • E Howard
    • A Cousido-Siah
    • Mathieu Lepage
    • Jérémy Schneider
    • Anne Bodlenner
    • Andre Mitschler
    • A Meli
    • I Izzo
    • A Alvarez
    • Alberto Podjarny
    • Philippe Compain

    Angewandte Chemie International Edition ; Volume: 57 ; Page: 8002-8006

    HAL DOI

  • Article in a journal

    Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome

    • Johann Bohm
    • Jocelyn Laporte

    Cell Calcium ; Volume: 76 ; Page: 1-9

    HAL DOI

  • Article in a journal

    Annotation, classification, genomic organization and expression of the Vitis vinifera CYPome

    • Tina Ilc
    • Gautier Arista
    • Raquel Tavares
    • Nicolas Navrot
    • Eric Duchêne
    • Amandine Velt
    • Frédéric Choulet
    • Etienne Paux
    • Marc Fischer
    • David R. Nelson
    • Philippe Hugueney
    • Daniele Werck Reichhart
    • Camille Rustenholz Russell

    PLoS ONE ; Volume: 13 ; Page: e0199902

    HAL DOI

  • Chapter of the book

    Phagocytosis by Sertoli Cells: Analysis of Main Phagocytosis Steps by Confocal and Electron Microscopy

    • Marina G. Yefimova
    • Nadia Messaddeq
    • Annie-Claire Meunier
    • Anne Cantereau
    • Bernard Jegou
    • Nicolas Bourmeyster

    Methods in Molecular Biology ; Volume: 1748 ; Page: 85-101

    HAL DOI