Publications scientifiques

Publications

• 2025

  • Combining dynamin 2 myopathy and neuropathy mutations rescues both phenotypes

    • Marie Goret
    • Evelina Edelweiss
    • Jérémy Jehl
    • David Reiss
    • Patricio Aguirre-Pineda
    • Sylvie Friant
    • Jocelyn Laporte

    Nature Communications ; Volume: 16 ; Page: 4667

    HAL DOI

  • Biophysical Modeling Uncovers Transcription Factor and Nucleosome Binding on Single DNA Molecules

    • Lasha Dalakishvili
    • Husain Managori
    • Anaïs Bardet
    • Věra Slaninová
    • Edouard Bertrand
    • Nacho Molina

    HAL DOI

  • 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

  • Assessment of the effects of estetrol and 17α-ethinylestradiol on zebrafish (Danio rerio) metamorphosis: a morphological and transcriptomic approach

    • Nathalie Leroux
    • Sébastien Baekelandt
    • Jean-Baptiste Robert
    • Laura Burattin
    • Céline Keime
    • Céline Gérard
    • Patrick Kestemont

    Elsevier BV ; Volume: 376 ; Page: 126423

    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

  • The transcription factor IID subunit Taf13 is dispensable for TATA binding protein promoter recruitment and RNA polymerase II transcription

    • Igor Martianov
    • Stephanie Le Gras
    • Guillaume Davidson
    • Irwin Davidson

    Elsevier BV ; Volume: 28 ; Page: 112286

    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