Scientific publications

Publications

• 2014

  • Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

    • Muriel de La Dure-Molla
    • Mickaël Quentric
    • Paulo Marcio Yamaguti
    • Ana Carolina Acevedo
    • Alan J. Mighell
    • Miikka Vikkula
    • Mathilde Huckert
    • Ariane Berdal
    • Agnès Bloch-Zupan

    Orphanet Journal of Rare Diseases ; Volume: 9 ; Page: 84

    HAL DOI

  • Redundant Mechanisms to Form Silent Chromatin at Pericentromeric Regions Rely on BEND3 and DNA Methylation

    • N. Saksouk
    • Tk Barth
    • Céline Ziegler-Birling
    • N Olova
    • A. Nowak
    • E Rey
    • J. Mateos-Langerak
    • Serge Urbach
    • W. Reik
    • Maria Elena Torres-Padilla
    • A Imhof
    • Dejardin J

    Molecular Cell ; Volume: 56 ; Page: 580-594

    HAL DOI

  • DNA Binding by Sgf11 Protein Affects Histone H2B Deubiquitination by Spt-Ada-Gcn5-Acetyltransferase (SAGA)

    • Christian Koehler
    • Jacques Bonnet
    • Matthieu Stierle
    • Christophe Romier
    • Didier Devys
    • Bruno Kieffer

    Journal of Biological Chemistry ; Volume: 289 ; Page: 8989 - 8999

    HAL DOI

  • Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia

    • Morgane Perdomini
    • Brahim Belbellaa
    • Laurent Monassier
    • Laurence Reutenauer
    • Nadia Messaddeq
    • Nathalie Cartier
    • Ronald G. Crystal
    • Patrick Aubourg
    • Hélène Puccio

    Nature Medicine ; Volume: 20 ; Page: 542--547

    HAL DOI

  • Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO1O Mutations

    • Mathilde Renaud
    • Mathieu Anheim
    • Erik-Jan Kamsteeg
    • Martial Mallaret
    • Fanny Mochel
    • Sascha Vermeer
    • Nathalie Drouot
    • Jean Pouget
    • Claire Redin
    • Emmanuelle Salort-Campana
    • Hubertus P.H. Kremer
    • Corien C. Verschuuren-Bemelmans
    • Jean Muller
    • Hans Scheffer
    • Alexandra Dürr
    • Christine Tranchant
    • Michel Koenig

    JAMA neurology ; Volume: 71 ; Page: 1305-1310

    HAL DOI

  • Perdeuteration: improved visualization of solvent structure in neutron macromolecular crystallography

    • Steve Fisher
    • Matthew Blakeley
    • Eduardo Howard
    • I Petit-Haertlein
    • M Haertlein
    • André Mitschler
    • Alexandra Cousido-Siah
    • Andrés Salvay
    • A Popov
    • C Muller-Dieckmann
    • Tatyana Petrova
    • Alberto Podjarny

    Acta Crystallographica Section D: Biological Crystallography ; Volume: 70 ; Page: 3266-3272

    HAL DOI

  • Deletion of MgcRacGAP in the male germ cells impairs spermatogenesis and causes male sterility in the mouse

    • Patrick Lores
    • Nadège Vernet
    • Tomohiro Kurosaki
    • Tom van de Putte
    • Danny Huylebroeck
    • Masaki Hikida
    • Gérard Gacon
    • Aminata Touré

    Developmental biology ; Volume: 386 ; Page: 419-427

    HAL DOI

  • Immunomodulation stimulates the innervation of engineered tooth organ

    • Tunay Kokten
    • Thibault Becavin
    • Laetitia Keller
    • Jean-Luc Weickert
    • Sabine Bopp-Kuchler
    • Herve Lesot

    PLoS ONE ; Volume: 9 ; Page: e86011

    HAL DOI

  • A high-throughput chemical screen with FDA approved drugs reveals that the antihypertensive drug Spironolactone impairs cancer cell survival by inhibiting homology directed repair

    • Or David Shahar
    • Alkmini Kalousi
    • Lital Eini
    • Benoit Fisher
    • Amélie Weiss
    • Jonatan Darr
    • Olga Mazina
    • Shay Bramson
    • Martin Kupiec
    • Amir Eden
    • Eran Meshorer
    • Alexander V. Mazin
    • Laurent Brino
    • Michal Goldberg
    • Evi Soutoglou

    Nucleic Acids Research ; Volume: 42 ; Page: 5689--5701

    HAL DOI

  • Approach to the diagnosis of congenital myopathies

    • Kahtyen N. North
    • Ching H. Wang
    • Nigel Clarke
    • Heinz Jungbluth
    • Mariz Vainzof
    • James J. Dowling
    • Kimberly Amburgey
    • Susana Quijano-Roy
    • Alan H. Beggs
    • Caroline Sewry
    • Nigel G. Laing
    • Cartsen G. Bonnemann
    • Valérie Biancalana

    Neuromuscul Disord ; Volume: 24 ; Page: 97-116

    HAL DOI