Scientific publications

Publications

• 2024

  • Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

    • Didier Lacombe
    • Agnès Bloch-Zupan
    • Cecilie Bredrup
    • Edward Cooper
    • Sofia Douzgou Houge
    • Sixto García-Miñaúr
    • Hülya Kayserili
    • Lidia Larizza
    • Vanesa Lopez Gonzalez
    • Leonie Menke
    • Donatella Milani
    • Francesco Saettini
    • Cathy Stevens
    • Lloyd Tooke
    • Jill van der Zee
    • Maria van Genderen
    • Julien Van-Gils
    • Jane Waite
    • Jean-Louis Adrien
    • Oliver Bartsch
    • ...

    Journal of Medical Genetics ; Volume: 61 ; Page: 503-519

    HAL DOI

  • Design, Synthesis, and Biological Evaluation of New Type of Gemini Analogues with a Cyclopropane Moiety in Their Side Chain

    • Uxía Gómez-Bouzó
    • Carole Peluso-Iltis
    • Hugo Santalla
    • Mario Alfredo Quevedo
    • Lieve Verlinden
    • Annemieke Verstuyf
    • Yagamare Fall
    • Generosa Gómez
    • Natacha Rochel

    Journal of Medicinal Chemistry ; Volume: 67 ; Page: 10386-10400

    HAL DOI

  • Distinct origin and region-dependent contribution of stromal fibroblasts to fibrosis following traumatic injury in mice

    • Daniel Holl
    • Wing Fung Hau
    • Anais Julien
    • Shervin Banitalebi
    • Jannis Kalkitsas
    • Soniya Savant
    • Enric Llorens-Bobadilla
    • Yann Herault
    • Guillaume Pavlovic
    • Mahmood Amiry-Moghaddam
    • David Oliveira Dias
    • Christian Göritz

    Nature Neuroscience ; Volume: 27 ; Page: 1285 - 1298

    HAL DOI

  • Structure–Activity Studies of 1,2,4-Oxadiazoles for the Inhibition of the NAD + -Dependent Lysine Deacylase Sirtuin 2

    • Arianna Colcerasa
    • Florian Friedrich
    • Jelena Melesina
    • Patrick Moser
    • Anja Vogelmann
    • Pavlos Tzortzoglou
    • Emilia Neuwirt
    • Manuela Sum
    • Dina Robaa
    • Lin Zhang
    • Elizabeth Ramos-Morales
    • Christophe Romier
    • Oliver Einsle
    • Eric Metzger
    • Roland Schüle
    • Olaf Groß
    • Wolfgang Sippl
    • Manfred Jung

    Journal of Medicinal Chemistry ; Volume: 67 ; Page: 10076-10095

    HAL DOI

  • The structure of the human 80S ribosome at 1.9 A resolution reveals the molecular role of chemical modifications and ions in RNA

    • Samuel Holvec
    • Charles Barchet
    • Antony Lechner
    • Léo Fréchin
    • S. Nimali T. de Silva
    • Isabelle Hazemann
    • Philippe Wolff
    • Ottilie von Loeffelholz
    • Bruno P. Klaholz

    Nature Structural and Molecular Biology ; Volume: 31 ; Page: 1251-1264

    HAL DOI

  • Dysregulated expression of cholesterol biosynthetic genes in Alzheimer's disease alters epigenomic signatures of hippocampal neurons

    • I. Paiva
    • J. Seguin
    • I. Grgurina
    • A. K. Singh
    • B. Cosquer
    • D. Plassard
    • L. Tzeplaeff
    • S. Le Gras
    • Ludovica Cotellessa
    • C. Decraene
    • J. Gambi
    • R. Alcala-Vida
    • M. Eswaramoorthy
    • Luc Buee
    • J. C. Cassel
    • Paolo Giacobini
    • David Blum
    • K. Merienne
    • T. K. Kundu
    • A. L. Boutillier

    Neurobiology of Disease ; Volume: 198 ; Page: 106538

    HAL DOI

  • Amphiphysin-2 (BIN1) functions and defects in cardiac and skeletal muscle

    • Quentin Giraud
    • Jocelyn Laporte

    Trends in Molecular Medicine ; Volume: 30 ; Page: 579-591

    HAL DOI

  • Integrase-LEDGF/p75 complex triggers the formation of biomolecular condensates that modulate HIV-1 integration efficiency in vitro

    • Claire Batisse
    • Delphine Lapaillerie
    • Nicolas Humbert
    • Eleonore Real
    • Rui Zhu
    • Yves Mély
    • Vincent Parissi
    • Marc Ruff
    • Julien Batisse

    Journal of Biological Chemistry ; Volume: 300 ; Page: 107374

    HAL DOI

  • A library of fluorinated prolines to study proline−rich motifs with 19F NMR

    • Davy Sinnaeve
    • Emile Ottoy
    • Bruno Linclau
    • Bruno Kieffer
    • Ilya Kuprov

    HAL

  • Control of lumen geometry and topology by the interplay between pressure and cell proliferation rate in pancreatic organoids

    • Byung Ho Lee
    • Kana Fuji
    • Heike Petzold
    • Phil Seymour
    • Siham Yennek
    • Coline Schewin
    • Allison Lewis
    • Daniel Riveline
    • Tetsuya Hiraiwa
    • Masaki Sano
    • Anne Grapin-Botton

    HAL DOI