Publications scientifiques

Publications

• 2024

  • Defining a vitamin A5/X specific deficiency – vitamin A5/X as a critical dietary factor for mental health

    • Diána Bánáti
    • Julian Hellman-Regen
    • Isabelle Mack
    • Hayley A. Young
    • David Benton
    • Manfred Eggersdorfer
    • Sascha Rohn
    • Joanna Dulińska-Litewka
    • Wojciech Krężel
    • Ralph Rühl

    International Journal for Vitamin and Nutrition Research ; Volume: 94 ; Page: 443-475

    HAL DOI

  • Biallelic variants in Plexin B2 ( PLXNB2 ) cause amelogenesis imperfecta, hearing loss and intellectual disability

    • Claire E L Smith
    • Virginie Laugel-Haushalter
    • Ummey Hany
    • Sunayna Best
    • Rachel L Taylor
    • James A Poulter
    • Saskia B Wortmann
    • Rene G Feichtinger
    • Johannes A Mayr
    • Suhaila Al Bahlani
    • Georgios Nikolopoulos
    • Alice Rigby
    • Graeme C Black
    • Christopher M Watson
    • Sahar Mansour
    • Chris F Inglehearn
    • Alan J Mighell
    • Agnès Bloch-Zupan

    Journal of Medical Genetics ; Volume: 61 ; Page: 689-698

    HAL DOI

  • Protein arginine methyltransferase 2 controls inflammatory signaling in acute myeloid leukemia

    • Camille Sauter
    • Thomas Morin
    • Fabien Guidez
    • John Simonet
    • Cyril Fournier
    • Céline Row
    • Denis Masnikov
    • Baptiste Pernon
    • Anne Largeot
    • Aziza Aznague
    • Yann Hérault
    • Guy Sauvageau
    • Marc Maynadié
    • Mary Callanan
    • Jean-Noël Bastie
    • Romain Aucagne
    • Laurent Delva

    Communications Biology ; Volume: 7 ; Page: 753

    HAL DOI

  • 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