Scientific publications

Publications

• 2025

  • Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

    • Caroline Nava
    • Benjamin Cogne
    • Amandine Santini
    • Elsa Leitão
    • François Lecoquierre
    • Yuyang Chen
    • Sarah Stenton
    • Thomas Besnard
    • Solveig Heide
    • Sarah Baer
    • Abhilasha Jakhar
    • Sonja Neuser
    • Boris Keren
    • Anne Faudet
    • Sylvie Forlani
    • Marie Faoucher
    • Kevin Uguen
    • Konrad Platzer
    • Alexandra Afenjar
    • Jean-Luc Alessandri
    • ...

    Nature Genetics

    HAL DOI

  • Compromised retinoic acid receptor beta expression accelerates the onset of motor, cellular and molecular abnormalities in a mouse model of Huntington’s disease

    • Nicolas Zinter
    • Tao Ye
    • Hanna Semaan
    • Valerie Fraulob
    • Damien Plassard
    • Wojciech Krezel

    Neurobiology of Disease ; Volume: 212 ; Page: 106943

    HAL DOI

  • Promiscuous structural cross-compatibilities between major shell components of Klebsiella pneumoniae bacterial microcompartments

    • Lucie Barthe
    • Damien Balestrino
    • Bessam Azizi
    • Delphine Dessaux
    • Vanessa Soldan
    • Jérémy Esque
    • Thomas Schiex
    • Sophie Barbe
    • Luis F Garcia-Alles

    PLoS ONE ; Volume: 20 ; Page: e0322518

    HAL DOI

  • Consequences of XPD mutations on DNA repair, transcription and cell division, leading to the development of rare genetic diseases, Conséquences des mutations dans la protéine XPD sur la réparation de l'ADN, la transcription et la division cellulaire, conduisant au développement de maladies génétiques rares

    • Clémence Elly

    HAL

  • Systematic Ocular Phenotyping of Knockout Mouse Lines Identifies Genes Associated With Age-Related Corneal Dystrophies

    • Andrew Briere
    • Peter Vo
    • Benjamin Yang
    • David Adams
    • Takanori Amano
    • Oana Amarie
    • Zorana Berberovic
    • Lynette Bower
    • Steve Brown
    • Samantha Burrill
    • Soo Young Cho
    • Sharon Clementson-Mobbs
    • Abigail d'Souza
    • Mohammad Eskandarian
    • Ann Flenniken
    • Helmut Fuchs
    • Valerie Gailus-Durner
    • Yann Hérault
    • Martin Hrabe de Angelis
    • Shundan Jin
    • ...

    Investigative Ophthalmology & Visual Science ; Volume: 66 ; Page: 7

    HAL DOI

  • Parkinson's Disease, Speech and Neurosurgery

    • Thomas Ollivier
    • Serge Pinto
    • Anne‐sophie Rolland
    • Emeline Cailliau
    • Gustavo Touzet
    • S. Thobois
    • A. Eusebio
    • E. Hainque
    • T. Rouaud
    • S. Drapier
    • D. Guehl
    • D. Maltete
    • M. Anheim
    • O. Lagha Boukbiza
    • C. Giordana
    • M. Tir
    • L. Hopes
    • C. Hubsch
    • B. Jarraya
    • A. Marques
    • ...

    Brain and Behavior ; Volume: 15 ; Page: e70101

    HAL DOI

  • Enhancing Visual Discrimination Task: Optimized Mouse Motivation in the Touchscreen Paradigm

    • Jeremy Jehl
    • Fabrice Riet
    • Aline Simonet
    • Yann Herault

    Current Protocols ; Volume: 5

    HAL DOI

  • Single-molecule nanopore sensing of proline cis / trans amide isomers

    • Luca Iesu
    • Mariam Sai
    • Vladimir Torbeev
    • Bruno Kieffer
    • Juan Pelta
    • Benjamin Cressiot

    Chemical Science ; Volume: 232 ; Page: 113948

    HAL DOI

  • Parp3 assists muscle function and skeletal muscle differentiation by selectively adjusting H3K27me3 enrichment

    • Zuleyha Yildirim
    • Aurélia Noll
    • Kathline Martin-Hernandez
    • Jean-Christophe Amé
    • Najat Hanini
    • Nadia Messaddeq
    • Isabelle Robert
    • Bernardo Reina San Martin
    • Gunn Hildrestrand
    • Magnar Bjørås
    • Françoise Dantzer

    iScience ; Volume: 28 ; Page: 112267

    HAL DOI

  • In vivo detection of ALFA-tagged proteins in C. elegans with a transgenic fluorescent nanobody

    • Sophie Quintin
    • Maria Izabella Saad
    • Grégory Amann
    • Anne-Cécile Reymann

    microPublication biology

    HAL DOI