Publications scientifiques

Publications

• 2016

  • Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia

    • Loic Broix
    • Hélène Jagline
    • Ekaterina L Ivanova
    • Stéphane Schmucker
    • Nathalie Drouot
    • Jill Clayton-Smith
    • Alistair T. Pagnamenta
    • Kay Metcalfe
    • Bertrand Isidor
    • Ulrike Walther Louvier
    • Annapurna Poduri
    • Jenny Taylor
    • Peggy Tilly
    • Karine Poirier
    • Yoann Saillour
    • Nicolas Lebrun
    • Tristan Stemmelen
    • Gabrielle Rudolf
    • Giuseppe Muraca
    • Benjamin Saintpierre
    • ...

    Nature Genetics ; Volume: 48 ; Page: 1349-1358

    HAL DOI

  • Ribosomal 18S rRNA base pairs with mRNA during eukaryotic translation initiation

    • Franck Martin
    • Jean-François Ménétret
    • Angelita Simonetti
    • Alexander G. Myasnikov
    • Quentin Vicens
    • Lydia Prongidi-Fix
    • S. Kundhavai Natchiar
    • Bruno P. Klaholz
    • Gilbert Eriani

    Nature Communications ; Volume: 7 ; Page: 12622

    HAL DOI

  • Eukaryotic Ribosome as a Target for Cardiovascular Disease

    • Simone Pellegrino
    • Gulnara Yusupova

    Cell Chemical Biology ; Volume: 23 ; Page: 1319-1321

    HAL DOI

  • Construction of a compatible Gateway-based co-expression vector set for expressing multiprotein complexes in E. coli

    • Loubna Salim
    • Claire Feger
    • Didier Busso

    Analytical Biochemistry ; Volume: 512 ; Page: 110-113

    HAL DOI

  • Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

    • Gina L. O’grady
    • Heather A. Best
    • Tamar E. Sztal
    • Vanessa Schartner
    • Myriam Sanjuan-Vazquez
    • Sandra Donkervoort
    • Osorio Abath Neto
    • Roger Bryan Sutton
    • Biljana Ilkovski
    • Norma Beatriz Romero
    • Tanya Stojkovic
    • Jahannaz Dastgir
    • Leigh B. Waddell
    • Anne Boland
    • Ying Hu
    • Caitlin Williams
    • Avnika A. Ruparelia
    • Thierry Maisonobe
    • Anthony J. Peduto
    • Stephen W. Reddel
    • ...

    American Journal of Human Genetics ; Volume: 99 ; Page: 1086-1105

    HAL DOI

  • Beware, polyarteritis nodosa still exists in nephrology!

    • Justine Perrin
    • Julie Carvelli
    • Bertrand Gondouin
    • Laurent Daniel
    • Megan Fraisse
    • Céline Gaudon
    • Fouad Bouzana
    • Henri Vacher-Coponat
    • Julie Moussi-Francès
    • Bertrand Dussol
    • Noemie Jourde-Chiche

    Néphrologie & Thérapeutique ; Page: 463-467

    HAL

  • The molecular and phenotypic spectrum of IQSEC2 -related epilepsy

    • Ayelet Zerem
    • Kazuhiro Haginoya
    • Dorit Lev
    • Lubov Blumkin
    • Sara Kivity
    • Ilan Linder
    • Cheryl Shoubridge
    • Elizabeth Emma Palmer
    • Michael Field
    • Jackie Boyle
    • David Chitayat
    • William Gaillard
    • Eric Kossoff
    • Marjolaine Willems
    • David Geneviève
    • Frédéric Tran-Mau-Them
    • Orna Epstein
    • Eli Heyman
    • Sarah Dugan
    • Alice Masurel-Paulet
    • ...

    Epilepsia ; Volume: 57 ; Page: 1858 - 1869

    HAL DOI

  • Influenza virus NS1 protein binds cellular DNA to block transcription of antiviral genes

    • Maria Anastasina
    • Nicolas Le May
    • Andrii Bugai
    • Yu Fu
    • Sandra Soderholm
    • Lana Gaelings
    • Tiina Ohman
    • Janne Tynell
    • Suvi Kyttänen
    • Matjaz Barboric
    • Tuula A. Nyman
    • Sampsa Matikainen
    • Ilkka Julkunen
    • Sarah J. Butcher
    • Jean-Marc Egly
    • D. E. Kainov

    BBA - Biochimica et Biophysica Acta ; Volume: 1859 ; Page: 1440-1448

    HAL DOI

  • Physiological Expression of AMPKγ2 Mutation Causes Wolff-Parkinson-White Syndrome and Induces Kidney Injury in Mice

    • Xiaodong Yang
    • John Mudgett
    • Ghina Bou About
    • Marie-France Champy Methlin
    • Hugues Jacobs
    • Laurent Monassier
    • Guillaume Pavlovic
    • Tania Sorg-Guss
    • Yann Hérault
    • Benoît Petit-Demoulière
    • Ku Lu
    • Wen Feng
    • Hongwu Wang
    • Li-Jun Ma
    • Roger Askew
    • Mark D. Erion
    • David E. Kelley
    • Robert W. Myers
    • Cai Li
    • Hong-Ping Guan

    Journal of Biological Chemistry ; Volume: 291 ; Page: 23428-23439

    HAL DOI

  • Reconstructed cell fate-regulatory programs in stem cells reveal hierarchies and key factors of neurogenesis

    • Marco Antonio Mendoza Parra
    • Valeriya Malysheva
    • Mohamed Ashick Mohamed Saleem
    • Michele Lieb
    • Aurelie Godel
    • Hinrich Gronemeyer

    Genome Research ; Volume: 26 ; Page: 1505-1519

    HAL DOI