Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

Anne Joutel, Christophe Corpechot, Anne Ducros, +16

Nature

Neurobiology Of DiseaseNotch3 MutationsMendelian DisorderGenetic DisorderGenetics +6

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients

Anne Joutel, F. Andreux, Swann Gaulis, +7

Journal of Clinical Investigation

Notch3 Receptor AccumulatesAngiogenesisSignal TransductionEpendymaPathology +11

<i>Notch3</i> is required for arterial identity and maturation of vascular smooth muscle cells

Valérie Domenga, Peggy Fardoux, Pierre Lacombe, +9

Genes & Development

Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease

Anne Joutel, Marie Monet-Leprêtre, Claudia Gösele, +8

Journal of Clinical Investigation

White MatterPathologyCerebrovascular DiseaseSocial SciencesCerebral Vascular Regulation +22

Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis

Anne Joutel, Pascal Favrole, Pierre Labauge, +10

The Lancet

MedicineSurgical PathologyHistopathologyImmunologyPathology +8

Transgenic Mice Expressing Mutant Notch3 Develop Vascular Alterations Characteristic of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

M M Ruchoux, Valérie Domenga, Peggy Brulin, +4

American Journal Of Pathology

Developmental BiologySubcortical InfarctsMedicineVascular MalformationVascular Biology +7

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, Marie Monet, Valérie Domenga, +2

The American Journal of Human Genetics

Rbp/jk Signaling PathwayVascular DiseaseSubcortical InfarctsAutophagyImmunology +11

Impaired Cerebral Vasoreactivity in a Transgenic Mouse Model of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Arteriopathy

Pierre Lacombe, Charleen Oligo, Valérie Domenga, +2

Stroke

Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain

Marie Monet-Leprêtre, Boris Bardot, B. Lemaire, +7

Brain

Notch3 LigandSignal TransductionAngiogenesisFunctional FeaturesNotch3 Receptor Function +13

Notch3 Is a Major Regulator of Vascular Tone in Cerebral and Tail Resistance Arteries

Eric J. Belin de Chantemèle, Kevin Retailleau, Frédéric Pinaud, +9

Arteriosclerosis Thrombosis and Vascular Biology