Publications scientifiques

Publications

• 2021

  • SCA7 Mouse Cerebellar Pathology Reveals Preferential Downregulation of Key Purkinje Cell-Identity Genes and Shared Disease Signature with SCA1 and SCA2

    • Anna Niewiadomska-Cimicka
    • Frédéric Doussau
    • Jean-Baptiste Perot
    • Michel Roux
    • Celine Keime
    • Antoine Hache
    • Françoise Piguet
    • Ariana Novati
    • Chantal Weber
    • Binnaz Yalcin
    • Hamid Meziane
    • Marie-France Champy
    • Erwan Grandgirard
    • Alice Karam
    • Nadia Messaddeq
    • Aurélie Eisenmann
    • Emmanuel Brouillet
    • Hoa Huu Phuc Nguyen
    • Julien Flament
    • Philippe Isope
    • ...

    Journal of Neuroscience ; Volume: 41 ; Page: 4910-4936

    HAL DOI

  • A conserved motif in human BTG1 and BTG2 proteins mediates interaction with the poly(A) binding protein PABPC1 to stimulate mRNA deadenylation

    • Hamza Amine
    • Nina Ripin
    • Sahil Sharma
    • Georg Stoecklin
    • Frédéric Allain
    • Bertrand Séraphin
    • Fabienne Mauxion

    RNA Biology ; Page: 1-16

    HAL DOI

  • 3D architecture and structural flexibility revealed in the subfamily of large glutamate dehydrogenases by a mycobacterial enzyme

    • Melisa Lázaro
    • Roberto Melero
    • Charlotte Huet
    • Jorge P López-Alonso
    • Sandra Delgado
    • Alexandra Dodu
    • Eduardo M Bruch
    • Luciano A Abriata
    • Pedro M Alzari
    • Mikel Valle
    • María-Natalia Lisa

    Communications Biology ; Volume: 4 ; Page: 684

    HAL DOI

  • Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth

    • Médéric Jeanne
    • Marie-Laure Vuillaume
    • Dévina Ung
    • Valerie Vancollie
    • Christel Wagner
    • Stephan Collins
    • Sandrine Vonwill
    • Damien Haye
    • Nora Chelloug
    • Rolph Pfundt
    • Joost Kummeling
    • Marie-Pierre Moizard
    • Sylviane Marouillat
    • Tjitske Kleefstra
    • Binnaz Yalcin
    • Frédéric Laumonnier
    • Annick Toutain

    Human Genetics ; Volume: 140 ; Page: 885-896

    HAL DOI

  • Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases

    • Manon Boivin
    • Jianwen Deng
    • Véronique Pfister
    • Erwan Grandgirard
    • Mustapha Oulad-Abdelghani
    • Bastien Morlet
    • Frank Ruffenach
    • Luc Negroni
    • Pascale Koebel
    • Hugues Jacob
    • Fabrice Riet
    • Anke Dijkstra
    • Kathryn Mcfadden
    • Wiley Clayton
    • Daojun Hong
    • Hiroaki Miyahara
    • Yasushi Iwasaki
    • Jun Sone
    • Zhaoxia Wang
    • Nicolas Charlet-Berguerand

    Neuron ; Volume: 109 ; Page: 1825-1835.e5

    HAL DOI

  • Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

    • M. Lefebvre
    • A. L. Bruel
    • E. Tisserant
    • N. Bourgon
    • Y. Duffourd
    • S. Collardeau-Frachon
    • T. Attie-Bitach
    • P. Kuentz
    • M. Assoum
    • E. Schaefer
    • S. El Chehadeh
    • M. C. Antal
    • V. Kremer
    • F. Girard-Lemaitre
    • J. L. Mandel
    • D. Lehalle
    • S. Nambot
    • N. Jean-Marcais
    • N. Houcinat
    • S. Moutton
    • ...

    Journal of Medical Genetics ; Volume: 58 ; Page: 400-413

    HAL DOI

  • Phase Correction for Absorption Mode Two-Dimensional Mass Spectrometry

    • Marc-André Delsuc
    • Kathrin Breuker
    • Maria van Agthoven

    Molecules ; Volume: 26 ; Page: 3388

    HAL DOI

  • First Detection of Tobacco Mosaic Virus in Tobacco Fields in Northern Lebanon

    • Rami Obeid
    • Elias Wehbe
    • Mohamad Rima
    • Mohammad Kabara
    • Romeo Al Bersaoui
    • Jean-Marc Sabatier
    • Ziad Fajloun
    • Dalya Gereige

    Infectious Disorders - Drug Targets ; Volume: 21 ; Page: 534-540

    HAL DOI

  • Community-Wide Experimental Evaluation of the PROSS Stability-Design Method

    • Yoav Peleg
    • Renaud Vincentelli
    • Brett M Collins
    • Kai-En Chen
    • Emma K Livingstone
    • Saroja Weeratunga
    • Natalya Leneva
    • Qian Guo
    • Kim Remans
    • Kathryn Perez
    • Gro E.K Bjerga
    • Øivind Larsen
    • Ondřej Vaněk
    • Ondřej Skořepa
    • A. Poterszman
    • Sophie Jacquemin
    • Svend Kjaer
    • Evangelos Christodoulou
    • Shira Albeck
    • Orly Dym
    • ...

    Journal of Molecular Biology ; Volume: 433 ; Page: 166964

    HAL DOI

  • Lithocholic acid-based design of noncalcemic vitamin D receptor agonists

    • Sunil Gaikwad
    • Carmen González
    • Daniel Vilariño
    • Gonzalo Lasanta
    • Carmen Villaverde
    • Antonio Mouriño
    • Lieve Verlinden
    • Annemieke Verstuyf
    • Carole Peluso-Iltis
    • Natacha Rochel
    • Klaudia Berkowska
    • Ewa Marcinkowska

    Bioorganic Chemistry ; Volume: 111 ; Page: 104878

    HAL DOI