A Joutel

Summary

Country: France

Publications

  1. pmc Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway
    Anne Joutel
    Institut National de la Sante et de la Recherche Medicale, INSERM E365, Faculté de Médecine Lariboisiere, and Laboratoire de Cytogénétique, Hopital Lariboisiere, Paris, France
    Am J Hum Genet 74:338-47. 2004
  2. ncbi request reprint [Molecular basis and physiopathogenic mechanisms of CADASIL: a model of small vessel diseases of the brain]
    A Joutel
    EMI 99 21, Faculté de Médecine Lariboisiere, 10, avenue de Verdun, 75010 Paris
    J Soc Biol 196:109-15. 2002
  3. ncbi request reprint Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis
    A Joutel
    INSERM EPI 99 21, Faculté de Médecine Lariboisiere, 10 Avenue de Verdun, 75010, Paris, France
    Lancet 358:2049-51. 2001
  4. ncbi request reprint Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
    A Joutel
    INSERM U25, Faculté Médecine Necker Enfants Malades, Paris, France
    Lancet 350:1511-5. 1997
  5. ncbi request reprint A human homolog of bacterial acetolactate synthase genes maps within the CADASIL critical region
    A Joutel
    INSERM U25, Paris, France
    Genomics 38:192-8. 1996
  6. ncbi request reprint The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel
    A Ducros
    INSERM E99 21, Faculté de Médecine Lariboisiere, Paris, France
    N Engl J Med 345:17-24. 2001
  7. ncbi request reprint Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
    A Joutel
    INSERM U25, Faculte de Medecine Necker Enfants Malades, Paris, France
    Nature 383:707-10. 1996
  8. ncbi request reprint Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
    A Joutel
    INSERM U25, Faculte de Medecine Necker Enfants Malades, Paris, France
    Neurology 54:1874-5. 2000
  9. ncbi request reprint De novo mutation in the Notch3 gene causing CADASIL
    A Joutel
    INSERM U25, Faculte de Medecine Necker Enfants Malades, and Hopital Lariboisière, Paris, France
    Ann Neurol 47:388-91. 2000
  10. ncbi request reprint Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12
    E Tournier-Lasserve
    Laboratoire de Pathologie de l Immunité INSERM CJF 90 01, Faculte de Medecine Necker Enfants Malades, Paris, France
    Nat Genet 3:256-9. 1993

Collaborators

  • M G Bousser
  • K Vahedi
  • H Chabriat
  • A Ducros
  • M M Ruchoux
  • S Alamowitch
  • C Vayssiere
  • Pierre Labauge
  • Martin Dichgans
  • F Riant
  • P Massin
  • P Favrole
  • F Chapon
  • V Biousse
  • D Leys
  • A Gaudric
  • THOMAS H GRIDLEY
  • JOHN PAUL SUNDBERG
  • A Ferreira
  • D Henrion
  • Elisabeth Tournier-Lasserve
  • Valérie Domenga
  • Jacqueline Maciazek
  • Marie Monet
  • Pierre Lacombe
  • Florence Cave-Riant
  • Michel Cohen-Tannoudji
  • Céline Souilhol
  • Luke T Krebs
  • Christian Denier
  • Marie Monet-Leprêtre
  • Barbara Lemaire
  • Charles Fouillade
  • Charles Babinet
  • Chiho Ishida
  • Steve Verreault
  • Caroline Dubroca
  • Michaelle Cecillon
  • C Denier
  • Boris Bardot
  • Ophelia Godin
  • Minh Arnoud
  • Laurent Magy
  • Manuele Mine
  • E Tournier-Lasserve
  • Francina Langa
  • Elizabeth Tournier-Lasserve
  • Georgina Neves
  • Ken Ichi Sakajiri
  • Sarah Cormier
  • Mario Rui Silva
  • Masahito Yamada
  • Sandrine Vandormael-Pournin
  • Mitsuhiro Yoshita
  • Charleen Oligo
  • Bernard Levy
  • Peggy Fardoux
  • Minh Arnoult
  • Matthias Mericskay
  • Zhen Li
  • Bernard Klonjkowski
  • Florence Marchelli
  • Laurent Brunereau
  • Eliane Berrou
  • Paul Beatus
  • Yingzi Xue
  • Urban Lendahl
  • Christine R Norton
  • V Domenga
  • Sophie Laberge-Le Couteulx
  • J M Gasc
  • C Lescoat
  • J Weissenbach
  • J Melki
  • J L Mas
  • E A Cabanis
  • G M Lathrop
  • M Baudrimont
  • J Maciazek

Detail Information

Publications31

  1. pmc Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway
    Anne Joutel
    Institut National de la Sante et de la Recherche Medicale, INSERM E365, Faculté de Médecine Lariboisiere, and Laboratoire de Cytogénétique, Hopital Lariboisiere, Paris, France
    Am J Hum Genet 74:338-47. 2004
    ..We conclude that mutations in Notch3 differently affect Jagged1 binding and Notch3 signaling via the RBP/JK pathway...
  2. ncbi request reprint [Molecular basis and physiopathogenic mechanisms of CADASIL: a model of small vessel diseases of the brain]
    A Joutel
    EMI 99 21, Faculté de Médecine Lariboisiere, 10, avenue de Verdun, 75010 Paris
    J Soc Biol 196:109-15. 2002
    ..Furthermore, they open new perspectives in the field of small-artery diseases of the brain and should help to further dissect their genetic etiologies and understand their pathogenic mechanisms...
  3. ncbi request reprint Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis
    A Joutel
    INSERM EPI 99 21, Faculté de Médecine Lariboisiere, 10 Avenue de Verdun, 75010, Paris, France
    Lancet 358:2049-51. 2001
    ..Our immunostaining technique is highly sensitive (96%) and specific (100%) for diagnosis of CADASIL...
  4. ncbi request reprint Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
    A Joutel
    INSERM U25, Faculté Médecine Necker Enfants Malades, Paris, France
    Lancet 350:1511-5. 1997
    ..To set up a diagnostic test and to delineate the Notch3 domains involved in CADASIL., we undertook mutations analysis in this gene in a group of CADASIL patients...
  5. ncbi request reprint A human homolog of bacterial acetolactate synthase genes maps within the CADASIL critical region
    A Joutel
    INSERM U25, Paris, France
    Genomics 38:192-8. 1996
    ....
  6. ncbi request reprint The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel
    A Ducros
    INSERM E99 21, Faculté de Médecine Lariboisiere, Paris, France
    N Engl J Med 345:17-24. 2001
    ..We studied the various clinical manifestations associated with mutations in CACNA1A in families with hemiplegic migraine with and without cerebellar signs...
  7. ncbi request reprint Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
    A Joutel
    INSERM U25, Faculte de Medecine Necker Enfants Malades, Paris, France
    Nature 383:707-10. 1996
    ..We have identified mutations in CADASIL patients that cause serious disruption of this gene, indicating that Notch3 could be the defective protein in CADASIL patients...
  8. ncbi request reprint Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
    A Joutel
    INSERM U25, Faculte de Medecine Necker Enfants Malades, Paris, France
    Neurology 54:1874-5. 2000
  9. ncbi request reprint De novo mutation in the Notch3 gene causing CADASIL
    A Joutel
    INSERM U25, Faculte de Medecine Necker Enfants Malades, and Hopital Lariboisière, Paris, France
    Ann Neurol 47:388-91. 2000
    ..Therefore, our finding suggests that CADASIL may be more frequent than anticipated...
  10. ncbi request reprint Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12
    E Tournier-Lasserve
    Laboratoire de Pathologie de l Immunité INSERM CJF 90 01, Faculte de Medecine Necker Enfants Malades, Paris, France
    Nat Genet 3:256-9. 1993
    ..Multilocus analysis with the location scores method established the best estimate for the location of the affected gene within a 14 centimorgan interval bracketed by D19S221 and D19S222 loci...
  11. pmc The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients
    A Joutel
    INSERM U25, Faculte de Medecine Necker Enfants Malades, Paris 75730, France Laboratoire de Cytogénétique, Hopital Lariboisiere, Paris 75010, France
    J Clin Invest 105:597-605. 2000
    ..These results strongly suggest that CADASIL mutations specifically impair the clearance of the Notch3 ectodomain, but not the cytosolic domain, from the cell surface...
  12. ncbi request reprint Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity
    A Ducros
    INSERM U25, Faculte de Medecine Necker, Hopital Lariboisiere, Paris, France
    Ann Neurol 42:885-90. 1997
    ..Chromosome 1-linked families differ from the ones linked to chromosome 19, because penetrance in those families is much lower, and in some of their members, epileptic seizures occur during severe migraine attacks...
  13. ncbi request reprint Krit1/cerebral cavernous malformation 1 mRNA is preferentially expressed in neurons and epithelial cells in embryo and adult
    C Denier
    INSERM EMI 99 21, Faculté de Médecine Lariboisiere, 10, avenue de Verdun, 75010 Paris, France
    Mech Dev 117:363-7. 2002
    ..A similar pattern of expression persisted in mouse and man adult nervous system and epithelia. Unexpectedly, in vascular tissues, expression of Krit1 was detected only in large blood vessels of the embryo...
  14. ncbi request reprint Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy
    K Vahedi
    Service de Neurologie, Assistance Publique Hopitaux de Paris, Hopital Lariboisiere, Paris, France
    Neurology 60:57-63. 2003
    ..Hereditary retinal arteriolar tortuosity is a distinct, autosomal dominant condition characterized by retinal arteriolar tortuosity and recurrent retinal hemorrhages. This condition is known to affect only retinal vessels...
  15. pmc Impaired vascular mechanotransduction in a transgenic mouse model of CADASIL arteriopathy
    Caroline Dubroca
    INSERM E365, Universite Paris 7, Paris, France
    Stroke 36:113-7. 2005
    ..In this study, we assessed early functional changes related to the expression of mutant Notch3 in resistance arteries...
  16. ncbi request reprint Impaired cerebral vasoreactivity in a transgenic mouse model of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy arteriopathy
    Pierre Lacombe
    Génétique des Maladies Vasculaires, INSERM U740, Faculte de Medecine Lariboisiere Saint Louis, Paris, France
    Stroke 36:1053-8. 2005
    ..The mechanisms of compromised cerebral hemodynamics in CADASIL remain to be elucidated. We tested the hypothesis that mutant NOTCH3 impairs the vasomotor function of cerebral vessels...
  17. pmc Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease
    Anne Joutel
    INSERM U740, Paris, France
    J Clin Invest 120:433-45. 2010
    ..These studies provide in vivo evidence for cerebrovascular dysfunction and microcirculatory failure as key contributors to hypoperfusion and white matter damage in this genetic model of ischemic SVD...
  18. pmc Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain
    Marie Monet-Leprêtre
    INSERM U740, Faculté de Médecine Paris 7, Site Villemin, 10 Avenue de Verdun, Paris, France
    Brain 132:1601-12. 2009
    ....
  19. pmc Notch3 is required for arterial identity and maturation of vascular smooth muscle cells
    Valérie Domenga
    INSERM E365, Faculté de Médecine Lariboisiere, Paris 75010, France
    Genes Dev 18:2730-5. 2004
    ..We further show that Notch3 is required for arterial specification of vSMC but not of endothelial cells. Our data reveal Notch3 to be the first cell-autonomous regulator of arterial differentiation and maturation of vSMC...
  20. ncbi request reprint A gene for familial hemiplegic migraine maps to chromosome 19
    A Joutel
    Laboratoire de Pathologie de l Immunité, Faculte de Medecine Necker, Paris, France
    Nat Genet 5:40-5. 1993
    ..A maximum lod score > 8 was found with two markers that are also strongly linked to CADASIL. Multilocus linkage analysis suggested that the loci responsible for the two diseases reside within an interval of about 30 cM on chromosome 19...
  21. doi request reprint Cadasil
    Hugues Chabriat
    Service de Neurologie, Groupe Hospitalier Lariboisière Fernand Widal, Assistance Publique Hopitaux de Paris, F 75010, Paris, France
    Lancet Neurol 8:643-53. 2009
    ..In this Review, we summarise the current understanding of CADASIL, a devastating disorder that also serves as a model for the more common forms of subcortical ischaemic strokes and pure vascular dementia...
  22. doi request reprint Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain
    Charles Fouillade
    INSERM, U740, Paris, F 75010, France
    Hum Mutat 29:452. 2008
    ..L1515P mutation falls in a novel mechanistic class of NOTCH3 mutations and that NOTCH3 activating mutations should be further considered for molecular analysis of patients with cerebral small-vessel-disease...
  23. pmc Nas transgenic mouse line allows visualization of Notch pathway activity in vivo
    Céline Souilhol
    CNRS, URA 2578, Paris, F 75015, France
    Genesis 44:277-86. 2006
    ..Thus, the NAS transgenic line constitutes a valuable and versatile tool to gain further insights into the complex and various functions of the Notch signaling pathway...
  24. ncbi request reprint A novel hereditary small vessel disease of the brain
    Steve Verreault
    Service de Neurologie, Laboratoire de Genetique, Hopital Lariboisiere, Assistance Publique des Hopitaux de Paris, France
    Ann Neurol 59:353-7. 2006
    ..Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most frequent of them. Herein, we report a family affected by a SVDB distinct from CADASIL...
  25. ncbi request reprint Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations
    Florence Cave-Riant
    INSERM EMI 99 21, Faculté de Médecine Lariboisiere, Paris, France
    Eur J Hum Genet 10:733-40. 2002
    ..Altogether these data suggest that KRIT1 mRNA decay due to the presence of premature stop codons and Krit1 haploinsufficiency may be the underlying mechanism of CCM...
  26. ncbi request reprint Migraine with aura and brain magnetic resonance imaging abnormalities in patients with CADASIL
    Katayoun Vahedi
    Service de Neurologie, Assistance Publique Hopitaux de Paris, Hopital Lariboisiere, Paris, France
    Arch Neurol 61:1237-40. 2004
    ....
  27. ncbi request reprint Clinical features of cerebral cavernous malformations patients with KRIT1 mutations
    Christian Denier
    INSERM E365, Lariboisière Medical School, Paris
    Ann Neurol 55:213-20. 2004
    ..Altogether these data suggest that the hereditary nature of the disorder may be overlooked in some mutation carriers presenting as sporadic cases with a unique lesion...
  28. ncbi request reprint The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo
    Marie Monet
    INSERM U740, Paris F 75010, France
    Hum Mol Genet 16:982-92. 2007
    ..Collectively, these data suggest a model that invokes novel pathogenic roles for the mutant NOTCH3 protein rather than compromised NOTCH3 function as the primary determinant of the CADASIL arteriopathy...
  29. pmc Transgenic mice expressing mutant Notch3 develop vascular alterations characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    Marie Magdeleine Ruchoux
    Laboratoire de Neuropathologie, Centre Hospitalier Regional Universitaire CHRU, Lille, France
    Am J Pathol 162:329-42. 2003
    ....
  30. ncbi request reprint Characterization of Notch3-deficient mice: normal embryonic development and absence of genetic interactions with a Notch1 mutation
    Luke T Krebs
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Genesis 37:139-43. 2003
    ..These data demonstrate that the Notch3 gene is not essential for embryonic development or fertility in mice, and does not have a redundant function with the Notch1 gene during early embryogenesis...
  31. ncbi request reprint CADASIL with a novel mutation in exon 7 of NOTCH3 (C388Y)
    Chiho Ishida
    Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Kanazawa
    Intern Med 45:981-5. 2006
    ..Immunostaining of a skin biopsy with a Notch3 monoclonal antibody is a beneficial method for the screening of CADASIL, particularly in the case of rare mutations outside the mutation hotspots in NOTCH3 as shown in this patient...