Associated Papers
The role of NOTCH3 in CADASIL pathogenesis: insights into novel therapies.
Felix-Ilemhenbhio F et al.
Brain Research, 2025
Light-chain split luciferase assay implicates pathological NOTCH3 thiol reactivity in inherited cerebral small vessel disease.
Cartee NMP et al.
The Journal of Biological Chemistry, 2025
Synergistic effects of mutation and glycosylation on disease progression.
Suzuki S et al.
Frontiers in Molecular Biosciences, 2025
The N-acetylglucosaminyltransferase Radical fringe contributes to defects in JAG1-dependent turnover and signaling of NOTCH3 CADASIL mutants.
Suzuki S et al.
The Journal of Biological Chemistry, 2024
SNP and Structural Study of the Notch Superfamily Provides Insights and Novel Pharmacological Targets against the CADASIL Syndrome and Neurodegenerative Diseases.
Papageorgiou L et al.
Genes, 2024
Headache and NOTCH3 Gene Variants in Patients with CADASIL.
Szymanowicz O et al.
Neurology International, 2023
Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.
Hack RJ et al.
Brain : a Journal of Neurology, 2023
Structural changes in NOTCH3 induced by CADASIL mutations: Role of cysteine and non-cysteine alterations.
Lee SJ et al.
The Journal of Biological Chemistry, 2023
Oligomerization, trans-reduction, and instability of mutant NOTCH3 in inherited vascular dementia.
Young KZ et al.
Communications Biology, 2022
Trans-Reduction of Cerebral Small Vessel Disease Proteins by Notch-Derived EGF-like Sequences.
Cartee NMP et al.
International Journal of Molecular Sciences, 2022
Lunatic fringe promotes the aggregation of CADASIL NOTCH3 mutant proteins.
Suzuki S et al.
Biochemical and Biophysical Research Communications, 2021
Clinical and Genetic Aspects of CADASIL.
Mizuno T et al.
Frontiers in Aging Neuroscience, 2020
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.
Bianchi S et al.
Journal of Neurology, 2015
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW et al.
Expert Review of Molecular Diagnostics, 2014
Biochemical characterization and cellular effects of CADASIL mutants of NOTCH3.
Meng H et al.
Plos One, 2012
Retinal nerve fiber layer thinning in CADASIL: an optical coherence tomography and MRI study.
Rufa A et al.
Cerebrovascular Diseases (basel, Switzerland), 2011
Lysosome-dependent degradation of Notch3.
Jia L et al.
The International Journal of Biochemistry & Cell Biology, 2009
Apoptosis in CADASIL: an in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients.
Formichi P et al.
Journal of Cellular Physiology, 2009
Structural and metabolic brain abnormalities in preclinical cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy.
Stromillo ML et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2009
Genetics of ischemic stroke: inheritance of a sporadic disorder.
Ross OA et al.
Current Neurology and Neuroscience Reports, 2009
Increased QT variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
Piccirillo G et al.
European Journal of Neurology, 2008
Plasma levels of asymmetric dimethylarginine in cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy.
Rufa A et al.
Cerebrovascular Diseases (basel, Switzerland), 2008
Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content.
Escary JL et al.
Human Mutation, 2000
CADASIL: hereditary arteriopathy leading to multiple brain infarcts and dementia.
Viitanen M et al.
Annals of the New York Academy of Sciences, 2000
Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains.
Dichgans M et al.
European Journal of Human Genetics : Ejhg, 2000
CADASIL: hereditary disease of arteries causing brain infarcts and dementia.
Kalimo H et al.
Neuropathology and Applied Neurobiology, 1999
[CADASIL disease: a hereditary arterial disease leading to brain infarctions and dementia].
Kalimo H et al.
Duodecim; Laaketieteellinen Aikakauskirja, 1998