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ProteomicsProteome analysis of microvessels from CADASIL patients
CADASIL, the most frequent and intensely studied monogenic SVD, is characterized by a severe pathology in the cerebral vasculature including the mutation-induced aggregation of the Notch3 extracellular domain (Notch3ECD) and the formation of protein deposits of insufficiently determined composition ...
ORGANISM(S): Homo sapiens (Human) 
2018-08-03 | PXD009393 | Pride
Small vessel disease Cadasil Human Microvessels 
ProteomicsOligomerization, trans-reduction, and instability of mutant NOTCH3 in inherited vascular dementia
Cerebral small vessel disease (SVD) is a prevalent disease of aging and a major contributor to stroke and dementia. The most commonly inherited SVD, CADASIL, is caused by dominantly acting cysteine-altering mutations in NOTCH3. These mutations change the number of cysteines from an even to an odd nu...
ORGANISM(S): Homo sapiens (Human) 
2022-05-20 | PXD031097 | Pride
Cadasil Disulfides Notch3 
TranscriptomicsRNA sequencing analysis of neural crest-derived vascular smooth muscle cells differentiated from CADASIL patient and control iPSCs.
NOTCH3 variants cause CADASIL (cerebral autosomal dominant arteriopathy and subcortical infarcts and leukoencephalopathy), the most common monogenetic form of small vessel disease (SVD) and vascular dementia (VaD). Although CADASIL is well recognized clinically, the molecular mechanisms underlying i...
ORGANISM(S): Homo sapiens 
2025-12-11 | E-MTAB-16303 | biostudies-arrayexpress
GenomicsModeling CADASIL vascular pathologies with patient-derived induced pluripotent stem cells
Modeling CADASIL vascular pathologies with patient-derived induced pluripotent stem cells
PRJNA512232 | ENA
GenomicsImpairment of hippocampal gamma oscillations, mitochondria and neurovascular function in CADASIL
Impairment of hippocampal gamma oscillations, mitochondria and neurovascular function in CADASIL
PRJNA1279044 | ENA
UnknownThe effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant.
Not available
S-EPMC6752295 | biostudies-literature
GenomicsPericyte KATP Channel Hyperactivity Redistributes Cortical Blood Flow in a CADASIL Mouse Model
Pericyte KATP Channel Hyperactivity Redistributes Cortical Blood Flow in a CADASIL Mouse Model
PRJNA1479260 | ENA
TranscriptomicsModeling CADASIL vascular pathologies with patient-derived induced pluripotent stem cells
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 plu...
ORGANISM(S): Homo sapiens 
2018-12-31 | GSE124500 | GEO
TranscriptomicsDifferential gene expression in frontal and occipital cortex and white matter in CADASIL brains compared to normal brains
We compared the gene expression in post-mortem brain specimen dissected from 2 CADASIL patients with samples from 5 non-affected controls in order to discover genes differentially expressed that could be involved in the development of neuronal damage in SVD. Samples form frontal cortex and white mat...
ORGANISM(S): Homo sapiens 
2015-03-12 | E-MTAB-3395 | biostudies-arrayexpress
TranscriptomicsImpairment of hippocampal gamma oscillations, mitochondria and neurovascular function in CADASIL
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a small vessel disease caused by NOTCH3 gene mutations, leading to vascular smooth muscle cell degeneration, arteriopathy, and subcortical ischemic infarcts. Many CADASIL patients, however, also d...
ORGANISM(S): Mus musculus 
2026-02-06 | GSE300114 | GEO
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