Catherine Caillaud

Summary

Country: France

Publications

  1. ncbi [Diagnosis of lysosomal diseases]
    C Caillaud
    Laboratoire de génétique métabolique, Faculté de Médecine Cochin Port Royal, Institut Cochin, 24 rue du Faubourg St Jacques, 75013 Paris, France
    Rev Med Interne 28:S288-9. 2007
  2. ncbi [Gaucher's and Fabry's diseases: biochemical and genetic aspects]
    Catherine Caillaud
    Laboratoire de Génétique AP HP, Universite Paris V, Département GDPM INSERM, Institut Cochin, 24, rue du Faubourg Saint Jacques, Paris, 75014 France
    J Soc Biol 196:135-40. 2002
  3. doi Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease
    Gaelle Douillard-Guilloux
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, Paris, France
    Hum Mol Genet 19:684-96. 2010
  4. doi Induced secretion of beta-hexosaminidase by human brain endothelial cells: a novel approach in Sandhoff disease?
    Lionel Batista
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, 24 rue du Faubourg St Jacques, 75014 Paris, France
    Neurobiol Dis 37:656-60. 2010
  5. doi Correction of glycogenosis type 2 by muscle-specific lentiviral vector
    Emmanuel Richard
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, INSERM U567, Paris, France
    In Vitro Cell Dev Biol Anim 44:397-406. 2008
  6. pmc A prospective study of bone marrow hematopoietic and mesenchymal stem cells in type 1 Gaucher disease patients
    Séverine Lecourt
    Assistance Publique Hopitaux de Paris, Hopital Saint Louis, Unité de Thérapie Cellulaire et Centre d Investigation Clinique en Biothérapies CIC BT501, Paris, France INSERM UMRS940, Institut Universitaire d Hematologie, Hopital Saint Louis, Paris, France Univ Paris Diderot, Sorbonne Paris Cité, Paris, France
    PLoS ONE 8:e69293. 2013
  7. doi Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients
    Pauline Gaignard
    Service de Biochimie et Génétique Moléculaire, Groupe Hospitalier Cochin Broca Hôtel Dieu, Assistance Publique Hopitaux de Paris, Paris, France
    Gene 512:521-6. 2013
  8. doi A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients
    Ichraf Kraoua
    Reference Center for Lysosomal Diseases, Hopital de la Salpetriere, Paris, France
    Brain Dev 33:131-9. 2011
  9. doi Rigid spine syndrome revealing late-onset Pompe disease
    Pascal Laforet
    Centre de Référence de Pathologie Neuromusculaire Paris Est, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Assistance Publique Hopitaux de Paris, Paris, France
    Neuromuscul Disord 20:128-30. 2010
  10. pmc The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients
    Jerome Stirnemann
    INSERM, UMR 738, Laboratoire de Biostatistiques Hôpital Bichat, Assistance Publique Hopitaux de Paris AP HP, Paris, France
    Orphanet J Rare Dis 7:77. 2012

Collaborators

Detail Information

Publications23

  1. ncbi [Diagnosis of lysosomal diseases]
    C Caillaud
    Laboratoire de génétique métabolique, Faculté de Médecine Cochin Port Royal, Institut Cochin, 24 rue du Faubourg St Jacques, 75013 Paris, France
    Rev Med Interne 28:S288-9. 2007
  2. ncbi [Gaucher's and Fabry's diseases: biochemical and genetic aspects]
    Catherine Caillaud
    Laboratoire de Génétique AP HP, Universite Paris V, Département GDPM INSERM, Institut Cochin, 24, rue du Faubourg Saint Jacques, Paris, 75014 France
    J Soc Biol 196:135-40. 2002
    ..These two diseases, well defined at the biochemical and genetic level, are good models of inherited diseases for the development of specific therapies...
  3. doi Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease
    Gaelle Douillard-Guilloux
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, Paris, France
    Hum Mol Genet 19:684-96. 2010
    ....
  4. doi Induced secretion of beta-hexosaminidase by human brain endothelial cells: a novel approach in Sandhoff disease?
    Lionel Batista
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, 24 rue du Faubourg St Jacques, 75014 Paris, France
    Neurobiol Dis 37:656-60. 2010
    ..On the basis of these in vitro data, we propose that brain endothelium be considered as a novel therapeutic target in Sandhoff disease...
  5. doi Correction of glycogenosis type 2 by muscle-specific lentiviral vector
    Emmanuel Richard
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, INSERM U567, Paris, France
    In Vitro Cell Dev Biol Anim 44:397-406. 2008
    ..Transduced cells showed lysosomal glycogen clearance, as demonstrated by electron microscopy. These results form the basis for a therapeutic approach of GSDII using lentiviral vector-mediated gene transfer into muscle stem cells...
  6. pmc A prospective study of bone marrow hematopoietic and mesenchymal stem cells in type 1 Gaucher disease patients
    Séverine Lecourt
    Assistance Publique Hopitaux de Paris, Hopital Saint Louis, Unité de Thérapie Cellulaire et Centre d Investigation Clinique en Biothérapies CIC BT501, Paris, France INSERM UMRS940, Institut Universitaire d Hematologie, Hopital Saint Louis, Paris, France Univ Paris Diderot, Sorbonne Paris Cité, Paris, France
    PLoS ONE 8:e69293. 2013
    ..However, GD-MSCs had a lower hematopoietic supportive capacity than those from healthy donors. These data suggest that BM microenvironment is altered in GD and that MSCs are key components of the manifestations observed in GD. ..
  7. doi Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients
    Pauline Gaignard
    Service de Biochimie et Génétique Moléculaire, Groupe Hospitalier Cochin Broca Hôtel Dieu, Assistance Publique Hopitaux de Paris, Paris, France
    Gene 512:521-6. 2013
    ..176del. Finally, this study reports a rapid detection of the Sandhoff disease-causing alleles facilitating genetic counselling and prenatal diagnosis in at-risk families...
  8. doi A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients
    Ichraf Kraoua
    Reference Center for Lysosomal Diseases, Hopital de la Salpetriere, Paris, France
    Brain Dev 33:131-9. 2011
    ..To describe the clinical presentation of 10 patients with type 3 Gaucher disease and the clinical evolution of nine of them following specific therapy regimes...
  9. doi Rigid spine syndrome revealing late-onset Pompe disease
    Pascal Laforet
    Centre de Référence de Pathologie Neuromusculaire Paris Est, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Assistance Publique Hopitaux de Paris, Paris, France
    Neuromuscul Disord 20:128-30. 2010
    ....
  10. pmc The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients
    Jerome Stirnemann
    INSERM, UMR 738, Laboratoire de Biostatistiques Hôpital Bichat, Assistance Publique Hopitaux de Paris AP HP, Paris, France
    Orphanet J Rare Dis 7:77. 2012
    ..Clinical features, complications and treatments of Gaucher's disease (GD), a rare autosomal-recessive disorder due to a confirmed lysosomal enzyme (glucocerebrosidase) deficiency, are described...
  11. doi A new lysosomal storage disorder resembling Morquio syndrome in sibs
    Laurence Perrin
    Departments of Genetics, AP HP Robert DEBRE University Hospital, Paris, France
    Eur J Med Genet 55:157-62. 2012
    ..We hypothesize that these two boys have a distinct autosomal recessive or X-linked lysosomal storage disorder of unknown origin that shares clinical and radiological features with Morquio disease...
  12. doi Bone marrow microenvironment in an in vitro model of Gaucher disease: consequences of glucocerebrosidase deficiency
    Séverine Lecourt
    Unité de Thérapie Cellulaire, Assistance Publique Hopitaux de Paris, Hopital Saint Louis, Paris, France
    Stem Cells Dev 21:239-48. 2012
    ..These data suggested that, in GD, MSCs represents a stem cell population that is likely to be involved in bone pathogenesis...
  13. doi Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
    Benedicte Heron
    Hopital Trousseau, Centre de référence des maladies lysosomales, Paris, France
    Am J Med Genet A 155:58-68. 2011
    ..Notwithstanding the rapidity of further clinical deterioration, all MPSIII patients suffer early onset devastating neurological manifestations that deserve early treatment when available...
  14. doi Rapid identification of HEXA mutations in Tay-Sachs patients
    Carole Giraud
    Service de Biochimie et Génétique Moléculaire, Groupe Hospitalier Cochin Saint Vincent De Paul, Assistance Publique Hopitaux de Paris, EA3620, Universite Paris Descartes, Paris, France
    Biochem Biophys Res Commun 392:599-602. 2010
    ..The time-saving procedure reported here could be useful for the characterization of Tay-Sachs-causing mutations, in particular in non-Ashkenazi patients mainly exhibiting rare mutations...
  15. doi Partial phenotypic correction and immune tolerance induction to enzyme replacement therapy after hematopoietic stem cell gene transfer of alpha-glucosidase in Pompe disease
    Gaelle Douillard-Guilloux
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, Paris, France
    J Gene Med 11:279-87. 2009
    ..We investigated for the first time the use of hematopoietic stem cell (HSC) gene therapy in a murine model of GSDII...
  16. doi Fabry disease and treatment with agalsidase alpha: unsuspected cardiac arrhythmia in two heterozygous women. In reference to pharmacovigilance
    Philippe Mougenot
    Department of Clinical Pharmacy, Bichat Claude Bernard University Hospital AP HP, Paris, France
    Eur J Clin Pharmacol 64:635-9. 2008
    ..An adverse effect caused by the treatment was suspected; therefore we informed the French pharmacovigilance authorities about these two events...
  17. ncbi Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations
    Cristina Drugan
    Department of Biochemistry, University of Medicine and Pharmacy Cluj Napoca, Romania
    Eur J Hum Genet 10:511-5. 2002
    ..The particularities of genotype-phenotype correlations may suggest the impact of other genetic or non-genetic factors on the clinical picture...
  18. doi The pulvinar sign: frequency and clinical correlations in Fabry disease
    Alessandro P Burlina
    Dept of Neuroscience, Neurological Clinic, University Hospital of Padova, Italy
    J Neurol 255:738-44. 2008
    ..The purpose of our study was to investigate the presence of the increased pulvinar signal intensity on T1-weighted imaging - pulvinar sign and its relationship with other clinical findings, in a non-selected cohort of Fabry patients...
  19. ncbi Dystonia and parkinsonism in GM1 type 3 gangliosidosis
    Emmanuel Roze
    Department of Neurology, Saint Antoine Hospital AP HP Paris, France
    Mov Disord 20:1366-9. 2005
    ..GM1 gangliosidosis must be considered as a cause of early-onset generalized dystonia, particularly in patients with short stature and skeletal dysplasia...
  20. ncbi Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency
    Claire Wary
    AFM CEA NMR Laboratory, Institut de Myologie, IFR14, G H Pitié Salpêtrière, 75651 Paris Cedex 13, France
    Neuromuscul Disord 13:545-53. 2003
    ..It may also offer an appropriate tool to study the role of glycogen accumulation in progression of the pathology...
  21. ncbi Unusual presentation of GM2 gangliosidosis mimicking a brain stem tumor in a 3-year-old girl
    Marie Cecile Nassogne
    Service de Maladies Métaboliques, Neurologie et Génétique, Hopital Cochin, Paris, France
    AJNR Am J Neuroradiol 24:840-2. 2003
    ..Enzyme study revealed deficiency of hexosaminidase A, variant B1. Gangliosidoses should be considered in the differential diagnosis of isolated infiltrating brain stem lesions in childhood...
  22. ncbi Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity?
    Salim Atrouni
    Service de Neurologie, Hôpital Makassed, Beirut, Lebanon
    Am J Med Genet A 118:76-81. 2003
    ..Differential diagnosis and the possibility of a fortuitous association or the report of a hitherto unreported dento-leukoencephalopathy are discussed...
  23. ncbi Biochemical markers of bone turnover as tools in the evaluation of skeletal involvement in patients with type 1 Gaucher disease
    Cristina Drugan
    Department of Biochemistry, University of Medicine and Pharmacy Cluj, Romania
    Blood Cells Mol Dis 28:13-20. 2002
    ....