ArticleProtein & cell2019
Modeling CADASIL vascular pathologies with patient-derived induced pluripotent stem cells.
Article in Protein & cell, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 39 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.
- Inflammatory CADASIL: the cross-link between CADASIL and multiple sclerosis: a report of two cases and systematic review of the literature.BMC neurology · 2026Pooled it
- NOTCH3 signal activation by its extracellular domain accumulation in an iPSC line newly established from a CADASIL patient.Human cell · 2026Article
- 3D Vessels-on-Chip using isogenic hiPSC-derived VSMCs reveal NOTCH3-driven alterations in brain small vessel disease.Stem cell reports · 2026Article
- Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B.American journal of human genetics · 2026Article
- A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms.NPJ genomic medicine · 2025Article
- Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B.bioRxiv : the preprint server for biology · 2025Article
- A Novel Mutation in Exon 10 of the NOTCH3 Gene in Human Cerebral Microvascular Endothelial Cells Induces CADASIL-Like Pathology and the Therapeutic Effect of Edaravone Dexborneol on Hereditary and Non-hereditary Cerebral Small Vessel Disease.Neurochemical research · 2025Article
- Extracellular domain shedding of NOTCH3 during endocytosis associated with heterogeneity between different CADASIL mutant activation mechanisms.Cell communication and signaling : CCS · 2025Article
- 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.The journal of headache and pain · 2025Review
- Inducing mononuclear cells of patients with CADASIL to construct a CSVD disease model.European journal of medical research · 2025Article
- Expression of inflammatory cytokines in CADASIL and their associations with clinical and neuroimaging features.Frontiers in immunology · 2025Article
- Blood vessel organoids generated by base editing and harboring single nucleotide variation in Notch3 effectively recapitulate CADASIL-related pathogenesis.Molecular neurobiology · 2024Article
- Applications, challenges, and prospects of induced pluripotent stem cells for vascular disease.Molecules and cells · 2024Review
- Use of iPSC-Derived Smooth Muscle Cells to Model Physiology and Pathology.Arteriosclerosis, thrombosis, and vascular biology · 2024Review
- Induced Pluripotent Stem Cells and Organoids in Advancing Neuropathology Research and Therapies.Cells · 2024Review
- Human ESC-derived vascular cells promote vascular regeneration in a HIF-1α dependent manner.Protein & cell · 2024Article
- SIRT2 counteracts primate cardiac aging via deacetylation of STAT3 that silences CDKN2B.Nature aging · 2023Article
- Exonic mutations in cell-cell adhesion may contribute to CADASIL-related CSVD pathology.Human genetics · 2023Article
- Chronic cerebral hypoperfusion: a critical feature in unravelling the etiology of vascular cognitive impairment.Acta neuropathologica communications · 2023Review
- Neural cortical organoids from self-assembling human iPSC as a model to investigate neurotoxicity in brain ischemia.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
15 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary cerebrovascular disease caused by a NOTCH3 mutation. However, the underlying cellular and molecular mechanisms remain unidentified. Here, we generated non-integrative induced pluripotent stem cells (iPSCs) from fibroblasts of a CADASIL patient harboring a heterozygous NOTCH3 mutation (c.3226C>T, p.R1076C). Vascular smooth muscle cells (VSMCs) differentiated from CADASIL-specific iPSCs showed gene expression changes associated with disease phenotypes, including activation of the NOTCH and NF-κB signaling pathway, cytoskeleton disorganization, and excessive cell proliferation. In comparison, these abnormalities were not observed in vascular endothelial cells (VECs) derived from the patient's iPSCs. Importantly, the abnormal upregulation of NF-κB target genes in CADASIL VSMCs was diminished by a NOTCH pathway inhibitor, providing a potential therapeutic strategy for CADASIL. Overall, using this iPSC-based disease model, our study identified clues for studying the pathogenic mechanisms of CADASIL and developing treatment strategies for this disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.