Associated Papers
The role of NOTCH3 in CADASIL pathogenesis: insights into novel therapies.
Felix-Ilemhenbhio F et al.
Brain Research, 2025
Signaling pathways and molecular mechanisms involved in the onset and progression of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); a focus on Notch3 signaling.
Heidari P et al.
The Journal of Headache and Pain, 2025
Mechanistic advances in factors influencing phenotypic variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a review.
Zhao Y et al.
Frontiers in Neurology, 2025
CADASIL: A NOTCH3-associated cerebral small vessel disease.
Yuan L et al.
Journal of Advanced Research, 2024
Analysis of the pathogenicity and pathological characteristics of NOTCH3 gene-sparing cysteine mutations in vitro and in vivo models.
Gong Z et al.
Frontiers in Molecular Neuroscience, 2024
Headache and NOTCH3 Gene Variants in Patients with CADASIL.
Szymanowicz O et al.
Neurology International, 2023
Multi-omics characterization reveals the pathogenesis of liver focal nodular hyperplasia.
Liu Y et al.
Iscience, 2022
Lunatic fringe promotes the aggregation of CADASIL NOTCH3 mutant proteins.
Suzuki S et al.
Biochemical and Biophysical Research Communications, 2021
CADASIL from Bench to Bedside: Disease Models and Novel Therapeutic Approaches.
Manini A et al.
Molecular Neurobiology, 2021
Human iPS cell-derived mural cells as an in vitro model of hereditary cerebral small vessel disease.
Yamamoto Y et al.
Molecular Brain, 2020
Clinical and Genetic Aspects of CADASIL.
Mizuno T et al.
Frontiers in Aging Neuroscience, 2020
Blood brain barrier leakage is not a consistent feature of white matter lesions in CADASIL.
Rajani RM et al.
Acta Neuropathologica Communications, 2019
Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.
Mishra A et al.
Brain : a Journal of Neurology, 2019
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW et al.
Expert Review of Molecular Diagnostics, 2014
Archetypal Arg169Cys mutation in NOTCH3 does not drive the pathogenesis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy via a loss-of-function mechanism.
Cognat E et al.
Stroke, 2014
Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL.
Monet-Leprêtre M et al.
Brain : a Journal of Neurology, 2013
Genetic animal models of cerebral vasculopathies.
Lee JH et al.
Progress in Molecular Biology and Translational Science, 2012
Biochemical characterization and cellular effects of CADASIL mutants of NOTCH3.
Meng H et al.
Plos One, 2012
Notch3 Arg170Cys knock-in mice display pathologic and clinical features of the neurovascular disorder cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
Wallays G et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2011
Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease.
Joutel A et al.
The Journal of Clinical Investigation, 2010
Notch signaling in the vasculature.
Gridley T
Current Topics in Developmental Biology, 2010
Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain.
Monet-Leprêtre M et al.
Brain : a Journal of Neurology, 2009
Genetics of ischemic stroke: inheritance of a sporadic disorder.
Ross OA et al.
Current Neurology and Neuroscience Reports, 2009
Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain.
Fouillade C et al.
Human Mutation, 2008
CADASIL-causing mutations do not alter Notch3 receptor processing and activation.
Low WC et al.
Neuroreport, 2006
Physiology and pathology of notch signalling system.
Bianchi S et al.
Journal of Cellular Physiology, 2006
CADASIL mutations impair Notch3 glycosylation by Fringe.
Arboleda-Velasquez JF et al.
Human Molecular Genetics, 2005
The spectrum of mutations for CADASIL diagnosis.
Federico A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2005
CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk.
Peters N et al.
Experimental Cell Research, 2004
The influence of genetic and cardiovascular risk factors on the CADASIL phenotype.
Singhal S et al.
Brain : a Journal of Neurology, 2004
Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis.
Joutel A et al.
Lancet (london, England), 2001
[CADASIL: genetics and physiopathology].
Joutel A et al.
Bulletin De L'academie Nationale De Medecine, 2000