Publications scientifiques

Publications

• 2023

  • Using patient iPSC-derived skeletal muscle models for development of a CRISPR-based exon removal therapeutic strategy

    • Daniel Moore
    • Heather Steele-Stallard
    • Luca Pinton
    • Valentina Lionello
    • Salma Jalal
    • Jean-Marie Cuisset
    • Gisèle Bonne
    • Peter S. Zammit
    • Francesco Saverio Tedesco

    HAL DOI

  • Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

    • Agnès Bloch-Zupan
    • Tristan Rey
    • Alexandra Jimenez Armijo
    • Marzena Kawczynski
    • Naji Kharouf
    • Muriel de la Dure-Molla
    • Emmanuelle Noirrit-Esclassan
    • Magali Hernandez
    • Clara Joseph-Beaudin
    • Serena Lopez
    • Corinne Tardieu
    • Beatrice Thivichon-Prince
    • Tatjana Dostalova
    • Milan Macek
    • Mustapha El Alloussi
    • Leila Qebibo
    • Supawich Morkmued
    • Patimaporn Pungchanchaikul
    • Blanca Urzúa Orellana
    • Marie-Cécile Maniere
    • ...

    Frontiers in Physiology ; Volume: 14

    HAL DOI

  • Analyse structurale et interactomique des ubiquitine-ligases E3, Ube3A et HERC2, impliquées dans le syndrome d'Angelman, Structural and interactomic analysis of Ube3A and HERC2, two E3 ubiquitin-ligases involved in Angelman syndrome

    • Auguste Demenge

    HAL

  • Inactivating the lipid kinase activity of PI3KC2β is sufficient to rescue myotubular myopathy in mice

    • Xènia Massana-Muñoz
    • Marie Goret
    • Vasugi Nattarayan
    • David Reiss
    • Christine Kretz
    • Gaëtan Chicanne
    • Bernard Payrastre
    • Bart Vanhaesebroeck
    • Jocelyn Laporte

    JCI Insight ; Volume: 8 ; Page: e151933

    HAL DOI

  • MOSPD2 et sites de contact membranaire : une protéine à plusieurs facettes, MOSPD2 and membrane contact sites : a protein with many facets

    • Mehdi Zouiouich

    HAL

  • Epigenomic mapping identifies an enhancer repertoire that regulates cell identity in bladder cancer through distinct transcription factor networks

    • Hélène Neyret-Kahn
    • Jacqueline Fontugne
    • Xiang Yu Meng
    • Clarice Groeneveld
    • Luc Cabel
    • Tao Ye
    • Elodie Guyon
    • Clémentine Krucker
    • Florent Dufour
    • Elodie Chapeaublanc
    • Audrey Rapinat
    • Daniel Jeffery
    • Laura Tanguy
    • Victoria Dixon
    • Yann Neuzillet
    • Thierry Lebret
    • David Gentien
    • Irwin Davidson
    • Yves Allory
    • Isabelle Bernard-Pierrot
    • ...

    Oncogene ; Volume: 42 ; Page: 1524-1542

    HAL DOI

  • Towards Preclinical Validation of Arbaclofen (R-baclofen) Treatment for 16p11.2 Deletion Syndrome

    • Brigitta B Gundersen
    • William T O’brien
    • Melanie D Schaffler
    • Maria N Schultz
    • Tatsuya Tsukahara
    • Sandra Martin Lorenzo
    • Valérie Nalesso
    • Alice H Luo Clayton
    • Ted Abel
    • Jacqueline N Crawley
    • Sandeep Robert Datta
    • Yann Herault

    HAL DOI

  • Apoptotic cell death in disease—Current understanding of the NCCD 2023

    • Ilio Vitale
    • Federico Pietrocola
    • Emma Guilbaud
    • Stuart Aaronson
    • John Abrams
    • Dieter Adam
    • Massimiliano Agostini
    • Patrizia Agostinis
    • Emad Alnemri
    • Lucia Altucci
    • Ivano Amelio
    • David Andrews
    • Rami Aqeilan
    • Eli Arama
    • Eric Baehrecke
    • Siddharth Balachandran
    • Daniele Bano
    • Nickolai Barlev
    • Jiri Bartek
    • Nicolas Bazan
    • ...

    Cell Death and Differentiation ; Volume: 30 ; Page: 1097-1154

    HAL DOI

  • 161 Prediction of subclinical endometritis in postpartum dairy cows from circulating cell-free miRNA profiles

    • G. Pereira
    • Gilles Charpigny
    • Y. Guo
    • E. Silva
    • M.F. Silva
    • T. Ye
    • L. Lopes-Da-Costa
    • P. Humblot

    Animal. Science proceedings ; Volume: 14 ; Page: 531-532

    HAL DOI

  • A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and altered brain architecture

    • Delfina M Romero
    • Donia Zaidi
    • Carmen Cifuentes-Diaz
    • Camille Maillard
    • Gael Grannec
    • Mohammed Selloum
    • Marie-Christine Birling
    • Nadia Bahi-Buisson
    • Fiona Francis

    Neurobiology of Disease ; Volume: 180 ; Page: 106085

    HAL DOI