Odile Boespflug-Tanguy

Summary

Country: France

Publications

  1. ncbi request reprint Genes involved in leukodystrophies: a glance at glial functions
    Odile Boespflug-Tanguy
    GReD, INSERM U931 CNRS 6247, Faculte de Medecine, 28, Place Henri Dunant, 63000 Clermont Ferrand, France
    Curr Neurol Neurosci Rep 8:217-29. 2008
  2. pmc Ovarian failure related to eukaryotic initiation factor 2B mutations
    Anne Fogli
    INSERM Unité Mixte de Recherche 384, Faculte de Medecine, Clermont Ferrand, France
    Am J Hum Genet 72:1544-50. 2003
  3. pmc Developmental splicing deregulation in leukodystrophies related to EIF2B mutations
    Aurélia Huyghe
    Genetique, reproduction et développement GReD, Faculte de Medecine, Clermont Ferrand, France
    PLoS ONE 7:e38264. 2012
  4. pmc Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders
    Laetitia Horzinski
    INSERM U931 CNRS 6247 Université Clermont, GReD, Clermont Ferrand, France
    PLoS ONE 4:e8318. 2009
  5. ncbi request reprint Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients
    Anne Fogli
    INSERM UMR 384, Faculte de Medecine, 28 Place Henri Dunant, Clermont Ferrand, France
    Eur J Hum Genet 12:561-6. 2004
  6. doi request reprint Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT)
    Patricia Combes
    INSERM, UMR, CNRS, GReD, Medical School, Clermont Ferrand, France
    Ann Hum Genet 76:261-7. 2012
  7. pmc Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients
    Laetitia Horzinski
    Faculte de Medecine, INSERM U931 CNRS 6247 Génétique, Reproduction et Développement, Clermont Ferrand, France
    BMC Neurol 10:94. 2010
  8. pmc CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations
    Anne Fogli
    Laboratoire GReD UMR INSERM U931 CNRS 6247, Faculte de Medecine, Clermont Ferrand, France
    PLoS ONE 7:e42688. 2012
  9. doi request reprint Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort
    Catherine Sarret
    Genetique, Reproduction et Développement, Unité Mixte de Recherche 931 Institut National de la Santé et de la Recherche médicale, Faculte de Medecine, Clermont Ferrand, France
    J Neurol Sci 312:123-6. 2012
  10. pmc Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene
    Eleonore Eymard-Pierre
    INSERM UMR384 et Fédération de Génétique Humaine Auvergne, Faculte de Medecine, Clermont Ferrand, France
    Am J Hum Genet 71:518-27. 2002

Collaborators

  • Anne Fogli
  • Raphael Schiffmann
  • Enrico Bertini
  • Pierre Labauge
  • Edith C H Friesema
  • Theo J Visser
  • Pierre Blanc
  • Ronald J A Wanders
  • Alexandra Afenjar
  • Gaetan Lesca
  • Susan Zeesman
  • Imen Dorboz
  • Richard H Quarles
  • Catherine Vaurs-Barriere
  • Eleonore Eymard-Pierre
  • Laetitia Horzinski
  • Patricia Combes
  • Catherine Sarret
  • Aurélia Huyghe
  • Diana Rodriguez
  • Yline Capri
  • Vincent des Portes
  • Renaud Touraine
  • Angela F Brady
  • Geneviève Giraud
  • Giorgia Montagna
  • Shelly R Gunn
  • Simone Kersseboom
  • Giusseppe De Michele
  • Aurélie Monnier
  • Yann Dantal
  • Mélanie Rigal
  • Vincent Planche
  • Marina Gaillard
  • Alain Hénaut
  • Christine Francannet
  • Liraz Kantor
  • Orna Elroy-Stein
  • Marie Céleste Cardoso
  • Giuseppe De Michele
  • Celine Gonthier
  • Marlène Deville
  • Bernard Dan
  • Lemlih Ouchchane
  • José Maria Prats-Viñas
  • Fernande Gauthier-Barichard
  • Raúl Estévez
  • Pietro Grosso
  • Manuel Palacin
  • Bruce Cohen
  • John A L Armour
  • Oscar Teijido
  • Koutarou Muraki
  • Marie Noëlle Bonnet-Dupeyron
  • Annalivia Loizzo
  • Filippo M Santorelli
  • Gioacchino Tedeschi
  • Jannine D Cody
  • Ehud Goldin
  • Jack L Lancaster
  • Daniel E Hale
  • Tong Hui Mixon
  • Isabelle Creveaux
  • John D Heiss
  • Simona Bonavita
  • Maria Tsokos
  • Michael D Weiss
  • Teresa L Johnson-Pais
  • Robin J Leach
  • Mansoor Mohammed
  • Christine R Kaneski
  • Kondi Wong
  • David H Viskochil
  • L Jean Hardies
  • Thais D Weibel
  • Xavier T Reveles
  • Janice C Palumbos
  • Mones Abu-Asab
  • Matteo di Capua
  • Filippo Maria Santorelli
  • Sandra Dollet

Detail Information

Publications19

  1. ncbi request reprint Genes involved in leukodystrophies: a glance at glial functions
    Odile Boespflug-Tanguy
    GReD, INSERM U931 CNRS 6247, Faculte de Medecine, 28, Place Henri Dunant, 63000 Clermont Ferrand, France
    Curr Neurol Neurosci Rep 8:217-29. 2008
    ..It focuses particularly on the genes involved in the hypomyelinated and vacuolating leukodystrophies, which provide new insights into the understanding of myelin formation and WM homeostasis...
  2. pmc Ovarian failure related to eukaryotic initiation factor 2B mutations
    Anne Fogli
    INSERM Unité Mixte de Recherche 384, Faculte de Medecine, Clermont Ferrand, France
    Am J Hum Genet 72:1544-50. 2003
    ..The correlation we observed between the age at onset of the neurological deterioration and the severity of OF suggests a common pathophysiological pathway...
  3. pmc Developmental splicing deregulation in leukodystrophies related to EIF2B mutations
    Aurélia Huyghe
    Genetique, reproduction et développement GReD, Faculte de Medecine, Clermont Ferrand, France
    PLoS ONE 7:e38264. 2012
    ..These findings demonstrate a developmental deregulation of splicing events in glial cells that is related to abnormal production of HNRNP, in eIF2B-mutated brains...
  4. pmc Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders
    Laetitia Horzinski
    INSERM U931 CNRS 6247 Université Clermont, GReD, Clermont Ferrand, France
    PLoS ONE 4:e8318. 2009
    ..Our objective was to evaluate further the utility of this marker and to validate eIF2B GEF activity in a larger cohort as a specific diagnostic test for eIF2B-related disorders...
  5. ncbi request reprint Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients
    Anne Fogli
    INSERM UMR 384, Faculte de Medecine, 28 Place Henri Dunant, Clermont Ferrand, France
    Eur J Hum Genet 12:561-6. 2004
    ..This relevant cellular model may also be used to test the functional impact of different molecules on the GEF activity for future therapeutic strategies...
  6. doi request reprint Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT)
    Patricia Combes
    INSERM, UMR, CNRS, GReD, Medical School, Clermont Ferrand, France
    Ann Hum Genet 76:261-7. 2012
    ..This observation strengthens the idea that caution must be taken when linking genetic variation to disease, especially in discrete phenotypes such as CAKUT...
  7. pmc Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients
    Laetitia Horzinski
    Faculte de Medecine, INSERM U931 CNRS 6247 Génétique, Reproduction et Développement, Clermont Ferrand, France
    BMC Neurol 10:94. 2010
    ..We tested the hypothesis that EIL from eIF2B-mutated patients also exhibit a heightened ER-stress response...
  8. pmc CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations
    Anne Fogli
    Laboratoire GReD UMR INSERM U931 CNRS 6247, Faculte de Medecine, Clermont Ferrand, France
    PLoS ONE 7:e42688. 2012
    ..We investigated the CSF glycome of eIF2B-mutated patients and age-matched normal individuals in order to further characterize the glycosylation defect for possible use as a biomarker...
  9. doi request reprint Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort
    Catherine Sarret
    Genetique, Reproduction et Développement, Unité Mixte de Recherche 931 Institut National de la Santé et de la Recherche médicale, Faculte de Medecine, Clermont Ferrand, France
    J Neurol Sci 312:123-6. 2012
    ....
  10. pmc Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene
    Eleonore Eymard-Pierre
    INSERM UMR384 et Fédération de Génétique Humaine Auvergne, Faculte de Medecine, Clermont Ferrand, France
    Am J Hum Genet 71:518-27. 2002
    ..Further analyses will determine whether other hereditary disorders with primitive involvement of the central motor pathways, as pure forms of spastic paraplegia, could be due to alsin dysfunction...
  11. doi request reprint Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation
    Yline Capri
    INSERM UMR 1103, CNRS 6293, GReD, Medical School, Clermont Ferrand, France
    Hum Mutat 34:1018-25. 2013
    ....
  12. ncbi request reprint PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1
    Patricia Combes
    INSERM U 384, Faculte de Medecine, Place Henri Dunant, 63000 Clermont Ferrand, France
    Neurogenetics 7:31-7. 2006
    ....
  13. doi request reprint Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects
    Catherine Vaurs-Barriere
    Institut National de la Sante et de la Recherche Medicale, U931, GReD CNRS 6247, Faculte de Medecine, Lyon, France
    Ann Neurol 65:114-8. 2009
    ....
  14. ncbi request reprint Autosomal dominant leukodystrophy and childhood ataxia with central nervous system hypomyelination syndrome
    Pierre Labauge
    Ann Neurol 60:485; author reply 485-6. 2006
  15. ncbi request reprint Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1
    Giorgia Montagna
    Molecular Medicine, IRCCS Bambino Gesù Children s Hospital, Rome, Italy
    Hum Mutat 27:292. 2006
    ..No correlation was observed between mutation, clinical features, and plasma membrane expression of mutant protein...
  16. ncbi request reprint Dominant form of vanishing white matter-like leukoencephalopathy
    Pierre Labauge
    Service de Neurologie, CHU Montpellier Nimes, Hopital Caremeau, Nimes, France
    Ann Neurol 58:634-9. 2005
    ....
  17. ncbi request reprint Insertion of mutant proteolipid protein results in missorting of myelin proteins
    Catherine Vaurs-Barriere
    National Institute of Health and Medical Research U384, Clermont Ferrand, France
    Ann Neurol 54:769-80. 2003
    ..We conclude that insertion of mutant PLP/DM20 with resulting aberrant distribution of other myelin proteins in peripheral nerve may constitute an important mechanism of dysmyelination in disorders associated with PLP mutations...
  18. ncbi request reprint Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q
    Shelly R Gunn
    Department of Cellular and Structural Biology, The University of Texas Health Science Center, 7703 Floyd Curl Drive, San Antonio, TX 78229, USA
    Am J Med Genet A 120:127-35. 2003
    ....
  19. ncbi request reprint Familial, adult onset form of leukoencephalopathy with brain stem and spinal cord involvement: inconstant high brain lactate and very slow disease progression
    Pierre Labauge
    Eur Neurol 58:59-61. 2007