Publications scientifiques

Publications

• 2014

  • The molecular genetics of coenzyme Q biosynthesis in health and disease

    • Leila Laredj
    • Floriana Licitra
    • Hélène Puccio

    Biochimie ; Volume: 100 ; Page: 78-87

    HAL DOI

  • A Novel Mutation in the \textbf\textitROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

    • Mathilde Huckert
    • Helen Mecili
    • Virginie Laugel-Haushalter
    • Corinne Stoetzel
    • Jean Muller
    • Elisabeth Flori
    • Vincent Laugel
    • Marie-Cécile Maniere
    • Hélène Dollfus
    • Agnès Bloch-Zupan

    Molecular Syndromology ; Volume: 5 ; Page: 293--298

    HAL DOI

  • Dynamic Partnership between TFIIH, PGC-1α and SIRT1 Is Impaired in Trichothiodystrophy

    • Hussein Traboulsi
    • Serena Davoli
    • Philippe Catez
    • Jean Marc Egly
    • Emmanuel Compe

    PLoS Genetics ; Volume: 10 ; Page: e1004732

    HAL DOI

  • Impact of the apolipoprotein E polymorphism, age and sex on neurogenesis in mice: pathophysiological relevance for Alzheimer's disease?

    • Alexis Koutseff
    • Christophe Mittelhaeuser
    • Karim Essabri
    • Johan Auwerx
    • Hamid Meziane

    Brain research ; Volume: 1542 ; Page: 32-40

    HAL DOI

  • In vivo and in vitro evidence of somatostatin receptors expression in a dedifferentiated retroperitoneal liposarcoma

    • Alessio Imperiale
    • Marie Pierrette Chenard
    • Serge Rohr
    • Anne Barlier
    • Bernard Goichot

    Clinical Nuclear Medicine ; Volume: 39 ; Page: 892-893

    HAL DOI

  • 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