Notch signalling in healthy and diseased vasculature
F Del Gaudio, D Liu, U Lendahl - Open Biology, 2022 - royalsocietypublishing.org
Notch signalling is an evolutionarily highly conserved signalling mechanism governing
differentiation and regulating homeostasis in many tissues. In this review, we discuss recent …
differentiation and regulating homeostasis in many tissues. In this review, we discuss recent …
Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice
MC Romay, RH Knutsen, F Ma… - The Journal of …, 2024 - Am Soc Clin Investig
Vascular aging affects multiple organ systems, including the brain, where it can lead to
vascular dementia. However, a concrete understanding of how aging specifically affects the …
vascular dementia. However, a concrete understanding of how aging specifically affects the …
Progress to Clarify How NOTCH3 Mutations Lead to CADASIL, a Hereditary Cerebral Small Vessel Disease
I Mizuta, Y Nakao-Azuma, H Yoshida, M Yamaguchi… - Biomolecules, 2024 - mdpi.com
Notch signaling is conserved in C. elegans, Drosophila, and mammals. Among the four
NOTCH genes in humans, NOTCH1, NOTCH2, and NOTCH3 are known to cause …
NOTCH genes in humans, NOTCH1, NOTCH2, and NOTCH3 are known to cause …
Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in CADASIL
N Dupré, F Gueniot, V Domenga-Denier… - The Journal of …, 2024 - Am Soc Clin Investig
Loss of arterial smooth muscle cells (SMCs) and abnormal accumulation of the extracellular
domain of the NOTCH3 receptor (Notch3ECD) are the 2 core features of CADASIL, a …
domain of the NOTCH3 receptor (Notch3ECD) are the 2 core features of CADASIL, a …
Pathophysiology of cerebral small vessel disease: a journey through recent discoveries
Cerebral small vessel disease (cSVD) encompasses a heterogeneous group of age-related
small vessel pathologies that affect multiple regions. Disease manifestations range from …
small vessel pathologies that affect multiple regions. Disease manifestations range from …
[HTML][HTML] Notch3 signaling and aggregation as targets for the treatment of CADASIL and other NOTCH3-associated small-vessel diseases
D Schoemaker, JF Arboleda-Velasquez - The American Journal of …, 2021 - Elsevier
Mutations in the NOTCH3 gene can lead to small-vessel disease in humans, including the
well-characterized cerebral autosomal dominant arteriopathy with subcortical infarcts and …
well-characterized cerebral autosomal dominant arteriopathy with subcortical infarcts and …
[HTML][HTML] Autosomal recessive NOTCH3-related leukodystrophy in two siblings and review of the literature
F Al-Amrani, A Al-Maawali, K Al-Thihli, E Al-Ajmi… - Pediatric Neurology, 2023 - Elsevier
Purpose This report describes two cases with homozygous loss of function variants in
NOTCH3 along with their clinical manifestations. Findings These patients presented with a …
NOTCH3 along with their clinical manifestations. Findings These patients presented with a …
Early-onset vascular leukoencephalopathy caused by bi-allelic NOTCH3 variants
MD Stellingwerff, C Nulton, G Helman… - …, 2022 - thieme-connect.com
Objective Heterozygous NOTCH3 variants are known to cause cerebral autosomal dominant
arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), with patients …
arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), with patients …
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3
P Iruzubieta, CAPF Alves, AM Al Shamsi… - …, 2024 - thelancet.com
Background NOTCH3 encodes a transmembrane receptor critical for vascular smooth
muscle cell function. NOTCH3 variants are the leading cause of hereditary cerebral small …
muscle cell function. NOTCH3 variants are the leading cause of hereditary cerebral small …
Stroke-associated intergenic variants modulate a human FOXF2 transcriptional enhancer
JR Ryu, S Ahuja, CR Arnold, KG Potts… - Proceedings of the …, 2022 - National Acad Sciences
SNPs associated with human stroke risk have been identified in the intergenic region
between Forkhead family transcription factors FOXF2 and FOXQ1, but we lack a mechanism …
between Forkhead family transcription factors FOXF2 and FOXQ1, but we lack a mechanism …