G Bonne

Summary

Country: France

Publications

  1. ncbi Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
    G Bonne
    INSERM UR153, GH Pitié Salpétrière, Paris
    Nat Genet 21:285-8. 1999
  2. ncbi Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
    G Bonne
    INSERM UR523, GH Pitié Salpétrière, Paris, France
    Ann Neurol 48:170-80. 2000
  3. ncbi Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
    G Bonne
    INSERM UR153, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Nat Genet 11:438-40. 1995
  4. ncbi [The laminopathy saga]
    G Bonne
    INSERM U523, Institut de Myologie, GH Pitié Salpétrière, Paris, Francia
    Rev Neurol 37:772-4. 2003
  5. pmc A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia
    C Goizet
    J Med Genet 41:e29. 2004
  6. ncbi Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations
    A Muchir
    INSERM U582, Institut de Myologie, GH Pitié Salpétrière, Batiment Babinski, 47 Boulevard de l Hopital, Paris 75013, France
    Muscle Nerve 30:444-50. 2004
  7. ncbi The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene
    B G M van Engelen
    Neuromuscular Centre, Nijmegen Institute of Neurology and Department of Pathology, University Medical Centre Nijmegen, 6500 HB Nijmegen, The Netherlands
    Neurology 64:374-6. 2005
  8. ncbi [Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations]
    R Ben Yaou
    INSERM U582 Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Paris
    Rev Neurol (Paris) 161:42-54. 2005
  9. ncbi [Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation]
    J E Forissier
    Service de cardiologie, Hopital Ambroise Pare, Boulogne Billancourt
    Arch Mal Coeur Vaiss 98:67-70. 2005
  10. pmc Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy
    V Cenni
    ITOI, CNR, Unit of Bologna, c o IOR, Bologna, Italy
    J Med Genet 42:214-20. 2005

Collaborators

Detail Information

Publications34

  1. ncbi Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
    G Bonne
    INSERM UR153, GH Pitié Salpétrière, Paris
    Nat Genet 21:285-8. 1999
    ..Together with mutations in EMD (refs 5,6), they underscore the potential importance of the nuclear envelope components in the pathogenesis of neuromuscular disorders...
  2. ncbi Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
    G Bonne
    INSERM UR523, GH Pitié Salpétrière, Paris, France
    Ann Neurol 48:170-80. 2000
    ....
  3. ncbi Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
    G Bonne
    INSERM UR153, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Nat Genet 11:438-40. 1995
    ..Mutations in the cardiac MyBP-C gene likely cause chromosome 11-linked hypertrophic cardiomyopathy, further supporting the hypothesis that hypertrophic cardiomyopathy results from mutations in genes encoding contractile proteins...
  4. ncbi [The laminopathy saga]
    G Bonne
    INSERM U523, Institut de Myologie, GH Pitié Salpétrière, Paris, Francia
    Rev Neurol 37:772-4. 2003
    ....
  5. pmc A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia
    C Goizet
    J Med Genet 41:e29. 2004
  6. ncbi Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations
    A Muchir
    INSERM U582, Institut de Myologie, GH Pitié Salpétrière, Batiment Babinski, 47 Boulevard de l Hopital, Paris 75013, France
    Muscle Nerve 30:444-50. 2004
    ....
  7. ncbi The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene
    B G M van Engelen
    Neuromuscular Centre, Nijmegen Institute of Neurology and Department of Pathology, University Medical Centre Nijmegen, 6500 HB Nijmegen, The Netherlands
    Neurology 64:374-6. 2005
    ..At the heterozygous state the nonsense mutation leads to a classic LGMD1B phenotype; the homozygous LMNA nonsense mutation causes a lethal phenotype...
  8. ncbi [Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations]
    R Ben Yaou
    INSERM U582 Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Paris
    Rev Neurol (Paris) 161:42-54. 2005
    ..Its clinical and genetic diagnosis is crucial for cardiac management and genetic counselling. Seven LMNA mutations have been previously reported to be responsible for LGMD1B...
  9. ncbi [Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation]
    J E Forissier
    Service de cardiologie, Hopital Ambroise Pare, Boulogne Billancourt
    Arch Mal Coeur Vaiss 98:67-70. 2005
    ..Three of these disorders affect cardiac and/or skeletal muscles with atrio-ventricular conduction disturbances, dilated cardiomyopathy and sudden cardiac death as common features...
  10. pmc Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy
    V Cenni
    ITOI, CNR, Unit of Bologna, c o IOR, Bologna, Italy
    J Med Genet 42:214-20. 2005
    ..A molecular complex in muscle cells formed by lamin A/C, emerin, and nuclear actin has been identified. The stability of this protein complex appears to be related to phosphorylation mechanisms...
  11. ncbi Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene
    E Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital, London, UK
    Muscle Nerve 31:602-9. 2005
    ..The fourth case had a mild and late-onset LGMD1B phenotype. Our cases further expand the clinical spectrum associated with mutations in the LMNA gene and provide new evidence of the role played by the C-terminal domain of lamin A...
  12. ncbi Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes
    A D'Amico
    Unit of Molecular Medicine, Department of Laboratory Medicine, Bambino Gesu Children s Research Hospital, Rome, Italy
    Neuromuscul Disord 15:521-4. 2005
    ..This report expands the underlying causes of the dropped head syndrome which may be the presenting feature of a congenital muscular dystrophy...
  13. ncbi Laminopathies affecting skeletal and cardiac muscles: clinical and pathophysiological aspects
    V Decostre
    Institut National de la Sante et de la Recherche Medicale, U582, Paris, France
    Acta Myol 24:104-9. 2005
    ..The phenotype of animal models in which the same mutation as that identified in EDMD or DCM-CD patients has been reproduced is presented as well as the pathophysiological mechanisms known to date...
  14. ncbi Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins
    F Muntoni
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, London, UK
    Brain 129:1260-8. 2006
    ..Furthermore, digenic inheritance may well contribute to the clinical severity of many other neuromuscular disorders...
  15. ncbi Phenotypic clustering of lamin A/C mutations in neuromuscular patients
    S Benedetti
    Laboratory of Clinical Molecular Biology DIBIT 2, Diagnostics and Research San Raffaele, Milan, Italy
    Neurology 69:1285-92. 2007
    ..Mutations in the LMNA gene, encoding human lamin A/C, have been associated with an increasing number of disorders often involving skeletal and cardiac muscle, but no clear genotype/phenotype correlation could be established to date...
  16. pmc Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations
    P Sebillon
    Laboratoire Génétique et Insuffisance Cardiaque, Association Claude Bernard Université Paris VI, Groupe Hospitalier Pitie Salpetriere, Paris, France
    J Med Genet 40:560-7. 2003
    ..The aim of this study was to perform a mutational analysis of LMNA in a large white population of patients affected by dilated cardiomyopathy with or without associated symptoms...
  17. ncbi Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy
    A J van der Kooi
    Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands
    Neurology 59:620-3. 2002
    ..Cases with lamin A/C mutations presenting with lipodystrophy in combination with cardiac and/or skeletal muscle abnormalities are described...
  18. ncbi Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy
    E Mercuri
    Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, London, UK
    Neuropediatrics 33:10-4. 2002
    ....
  19. ncbi Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy
    J F Forissier
    Unité de Recherches 153 de l INSERM, Paris, France
    Circulation 94:3069-73. 1996
    ....
  20. ncbi Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy
    L Carrier
    Unité de Recherches 153 de l INSERM, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Circ Res 80:427-34. 1997
    ..This spectrum of mutations differs from the ones previously observed in other disease genes causing FHC. Our data strengthen the functional importance of MyBP-C in the regulation of cardiac work and provide the basis for further studies...
  21. ncbi Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy
    J Flavigny
    Biochimie B, and IFR de Physiopathologie et de Génétique Cardiovasculaire, Hopital Pitie Salpetriere, Paris, France
    J Mol Med (Berl) 76:208-14. 1998
    ....
  22. ncbi Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?
    R Ben Yaou
    Institut National de la Sante et de la Recherche Medicale, Unité 582, Paris, France
    Neurology 68:1883-94. 2007
    ..LMNA mutations can also lead to several other disorders, collectively termed laminopathies, involving heart, fat, nerve, bone, and skin tissues, and some premature ageing syndromes...
  23. pmc Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy
    P Richard
    Service de Biochimie B, Groupe Hospitalier Pitie Salpetriere, Paris, France
    J Med Genet 36:542-5. 1999
    ..This double heterozygosity is not lethal but is associated with a more severe phenotype...
  24. pmc Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
    M Raffaele di Barletta
    Institute of Genetics, Biochemistry and Evolution Consiglio Nazionale delle Ricerche, 27100 Pavia, Italy
    Am J Hum Genet 66:1407-12. 2000
    ....
  25. ncbi Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
    A Muchir
    INSERM UR523, Institut de Myologie, GH Pitié Salpétrière, 75013 Paris, France
    Hum Mol Genet 9:1453-9. 2000
    ..Further analysis of phenotype-genotype relationship will help to clarify the variability of the phenotype observed in these two muscular dystrophies...
  26. ncbi Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy
    C Ostlund
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    J Cell Sci 114:4435-45. 2001
    ..These results indicate that some lamin A mutants causing disease can be aberrantly localized, partially disrupt the endogenous lamina and alter emerin localization, whereas others localize normally in transfected cells...
  27. ncbi Autosomal dominant Emery-Dreifuss muscular dystrophy: a new family with late diagnosis
    J Colomer
    Servei de Neurologia, Hospital Sant Joan de Deu, Passeig Sant Joan de Deu, 2, 08950 Esplugues, Barcelona, Spain
    Neuromuscul Disord 12:19-25. 2002
    ..Clinical, pathological and genetic data are described. We emphasize the difficulties in diagnosis, especially in sporadic cases or young patients in whom the clinical picture is not completely established...
  28. ncbi Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations
    C A Sewry
    Department of Histopathology, Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Trust, Oswestry, UK
    Neuropathol Appl Neurobiol 27:281-90. 2001
    ..Immunodetection of reduced laminin beta1 may be a useful secondary marker in adults with this disorder, as immunocytochemistry of lamins is not yet of diagnostic use...
  29. ncbi A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block
    T Kitaguchi
    Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu, Tokyo 183-0042, Japan
    Neuromuscul Disord 11:542-6. 2001
    ..This is the first report of muscular dystrophy shown to have a mutation of LMNA in a Japanese family as well as the first case of missense mutation in the exon 8 with LGMD1B phenotype...
  30. ncbi [Cardiac manifestations of laminopathies]
    S Brette
    Service de cardiologie U350, Centre Hospitalier Universitaire, Angers
    Arch Mal Coeur Vaiss 97:973-7. 2004
    ..The authors report 5 cases of DCM, with and without associated skeletal muscular disease, due to laminopathies...
  31. ncbi Nuclear lamins: laminopathies and their role in premature ageing
    J L V Broers
    Department of Molecular Cell Biology, University of Maastricht, Research Institutes CARIM, GROW, and EURON, The Netherlands
    Physiol Rev 86:967-1008. 2006
    ..It is concluded that lamins seem to be key players in, among others, controlling the process of cellular ageing, since disturbance in lamin protein structure gives rise to several forms of premature ageing...
  32. ncbi Heart involvement in lamin A/C related diseases
    R Ben Yaou
    Institut National de la Sante et de la Recherche Medicale, Paris
    Arch Mal Coeur Vaiss 99:848-55. 2006
    ....
  33. ncbi Expression of human cytochrome c oxidase subunits during fetal development
    G Bonne
    Laboratoire de Biochimie, INSERM U75, Paris, France
    Eur J Biochem 217:1099-107. 1993
    ..The results clearly indicate a switch of gene expression in heart and skeletal muscle during development, from the liver type to the heart/muscle type of subunit VIa (and partly VIIa)...
  34. ncbi Familial hypertrophic cardiomyopathy: from mutations to functional defects
    G Bonne
    From the INSERM Unit 153, the Service de Biochimie B, and the IFR de Physiologie et Génétique Cardiovasculaire, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Circ Res 83:580-93. 1998
    ....