Jocelyn Laporte

Summary

Country: France

Publications

  1. pmc Endosomal phosphoinositides and human diseases
    Anne Sophie Nicot
    Department of Neurobiology and Genetics, Institut de Genetique et de Biologie Moleculaire et Cellulaire, INSERM U596, CNRS UMR 7104, Universite Louis Pasteur de Strasbourg, College de France, 67404 Illkirch, France
    Traffic 9:1240-9. 2008
  2. pmc AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis
    Anna Buj-Bello
    Department of Neurobiology and Genetics, INSERM U596, CNRS UMR 7104, Universite Louis Pasteur de Strasbourg, College de France, 67404 Illkirch, France
    Hum Mol Genet 17:2132-43. 2008
  3. pmc Centronuclear (myotubular) myopathy
    Heinz Jungbluth
    Department of Paediatric Neurology, Neuromuscular Service, Evelina Children s Hospital, St Thomas Hospital, London, UK
    Orphanet J Rare Dis 3:26. 2008
  4. doi request reprint Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo
    Leonela Amoasii
    Department of Translational Medicine, Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, INSERM U964, CNRS UMR7104, Universite de Strasbourg, College de France, 67404 Illkirch, France
    J Cell Sci 126:1806-19. 2013
  5. pmc Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice
    Leonela Amoasii
    Department of Translational Medecine, Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, INSERM U964, CNRS UMR7104, Universite de Strasbourg, College de France, Illkirch, France
    PLoS Genet 8:e1002965. 2012
  6. doi request reprint Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways
    Lama Al-Qusairi
    Department of Translational Medicine and Neurogenetics, Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, Illkirch, France
    FASEB J 27:3384-94. 2013
  7. pmc Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy
    Johann Böhm
    Département de Médecine Translationelle et Neurogénétique, Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch, France
    Am J Hum Genet 92:271-8. 2013
  8. pmc Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle
    Karim Hnia
    Department of Neurobiology and Genetics, Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch, France
    J Clin Invest 121:70-85. 2011
  9. pmc T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase
    Lama Al-Qusairi
    Department of Neurobiology and Genetics, and Imaging Center Electron Microscopy, Institut de Genetique et de Biologie Moleculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale U964, Centre National de la Recherche Scientifique, Unite Mixte de Recherche 7104, Universite Louis Pasteur, College de France, 67404 Illkirch, France
    Proc Natl Acad Sci U S A 106:18763-8. 2009
  10. pmc Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy
    Johann Böhm
    Department of Translational Medicine and Neurogenetics, Institut de Genetique et de Biologie Moleculaire et Cellulaire, INSERM U964 CNRS UMR7104, University of Strasbourg, College de France, Illkirch, France
    Hum Mutat 33:949-59. 2012

Collaborators

Detail Information

Publications15

  1. pmc Endosomal phosphoinositides and human diseases
    Anne Sophie Nicot
    Department of Neurobiology and Genetics, Institut de Genetique et de Biologie Moleculaire et Cellulaire, INSERM U596, CNRS UMR 7104, Universite Louis Pasteur de Strasbourg, College de France, 67404 Illkirch, France
    Traffic 9:1240-9. 2008
    ..This review presents the roles of the endosomal PIs and their regulators and proposes defects of membrane remodeling as a common pathological mechanism for the corresponding diseases...
  2. pmc AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis
    Anna Buj-Bello
    Department of Neurobiology and Genetics, INSERM U596, CNRS UMR 7104, Universite Louis Pasteur de Strasbourg, College de France, 67404 Illkirch, France
    Hum Mol Genet 17:2132-43. 2008
    ..This study provides a proof-of-principle that local delivery of an AAV vector expressing myotubularin can improve the motor capacities of XLMTM muscle and represents a novel approach to study myotubularin function in skeletal muscle...
  3. pmc Centronuclear (myotubular) myopathy
    Heinz Jungbluth
    Department of Paediatric Neurology, Neuromuscular Service, Evelina Children s Hospital, St Thomas Hospital, London, UK
    Orphanet J Rare Dis 3:26. 2008
    ..Whereas the X-linked form due to MTM1 mutations is often fatal in infancy, dominant forms due to DNM2 mutations and some cases of the recessive BIN1-related form appear to be associated with an overall more favourable prognosis...
  4. doi request reprint Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo
    Leonela Amoasii
    Department of Translational Medicine, Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, INSERM U964, CNRS UMR7104, Universite de Strasbourg, College de France, 67404 Illkirch, France
    J Cell Sci 126:1806-19. 2013
    ..We propose that alteration in SR remodeling is a primary cause of X-linked centronuclear myopathy. The tight regulation of PtdIns3P on specific membrane subdomains may be a general mechanism to control membrane curvature...
  5. pmc Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice
    Leonela Amoasii
    Department of Translational Medecine, Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, INSERM U964, CNRS UMR7104, Universite de Strasbourg, College de France, Illkirch, France
    PLoS Genet 8:e1002965. 2012
    ..This underlines that removal of enzymes should be used with care to conclude on the physiological importance of their activity...
  6. doi request reprint Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways
    Lama Al-Qusairi
    Department of Translational Medicine and Neurogenetics, Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, Illkirch, France
    FASEB J 27:3384-94. 2013
    ..These data support the hypothesis that the unbalanced regulation of the ubiquitin proteasome pathway and the autophagy machinery is a primary cause of the XLMTM pathogenesis...
  7. pmc Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy
    Johann Böhm
    Département de Médecine Translationelle et Neurogénétique, Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch, France
    Am J Hum Genet 92:271-8. 2013
    ....
  8. pmc Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle
    Karim Hnia
    Department of Neurobiology and Genetics, Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch, France
    J Clin Invest 121:70-85. 2011
    ..Defects in IF stabilization and mitochondrial dynamics appear as common physiopathological features of centronuclear myopathies and desmin-related myopathies...
  9. pmc T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase
    Lama Al-Qusairi
    Department of Neurobiology and Genetics, and Imaging Center Electron Microscopy, Institut de Genetique et de Biologie Moleculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale U964, Centre National de la Recherche Scientifique, Unite Mixte de Recherche 7104, Universite Louis Pasteur, College de France, 67404 Illkirch, France
    Proc Natl Acad Sci U S A 106:18763-8. 2009
    ....
  10. pmc Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy
    Johann Böhm
    Department of Translational Medicine and Neurogenetics, Institut de Genetique et de Biologie Moleculaire et Cellulaire, INSERM U964 CNRS UMR7104, University of Strasbourg, College de France, Illkirch, France
    Hum Mutat 33:949-59. 2012
    ..Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT...
  11. doi request reprint Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies
    Anne Toussaint
    Department of Neurobiology and Genetics, Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch, France
    Acta Neuropathol 121:253-66. 2011
    ..We propose that aberrant BIN1 localization and defects in triad structure are part of a common pathogenetic mechanism shared between the three forms of centronuclear myopathies...
  12. doi request reprint Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders
    Nasim Vasli
    IGBMC Institut de Génétique et de Biologie Moléculaire et Cellulaire, 1, rue Laurent Fries, BP 10142, 67404 Illkirch, France
    Acta Neuropathol 125:173-85. 2013
    ..Massively parallel sequencing for mutation identification is expected to greatly improve diagnosis, genetic counseling and patient management...
  13. doi request reprint Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology
    Karim Hnia
    Department of Translational Medicine and Neurogenetics, IGBMC Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France
    Trends Mol Med 18:317-27. 2012
    ..A better understanding of myotubularin pathophysiology will pave the way towards therapeutic strategies...
  14. doi request reprint Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations
    Valérie Tosch
    Department of Neurobiology and Genetics, Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch, France
    Neuromuscul Disord 20:375-81. 2010
    ..Patients with centronuclear myopathy and no molecular diagnosis should be investigated for MTM1 defects at the cDNA and protein level...
  15. pmc T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases
    Lama Al-Qusairi
    Department of Translational Medecine and Neurogenetics, IGBMC Institut de Génétique et de Biologie Moléculaire et Cellulaire, 1 rue Laurent Fries, 67404 Illkirch, France
    Skelet Muscle 1:26. 2011
    ..The importance of these proteins in triad biogenesis and subsequently in muscle contraction is sustained by studies on animal models and by the direct implication of most of these proteins in human myopathies...