[HTML][HTML] Management of inherited CNS small vessel diseases: the CADASIL example: a scientific statement from the American Heart Association

JF Meschia, BB Worrall, FM Elahi, OA Ross, MM Wang… - Stroke, 2023 - journals.lww.com
Lacunar infarcts and vascular dementia are important phenotypic characteristics of cerebral
autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, the …

[HTML][HTML] 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 …

[HTML][HTML] Pioneering therapies for post-infarction angiogenesis: Insight into molecular mechanisms and preclinical studies

C Chen, J Wang, C Liu, J Hu, L Liu - Biomedicine & Pharmacotherapy, 2023 - Elsevier
Acute myocardial infarction (MI), despite significant progress in its treatment, remains a
leading cause of chronic heart failure and cardiovascular events such as cardiac arrest …

Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations

W Ni, Y Zhang, L Zhang, JJ Xie, HF Li… - CNS neuroscience & …, 2022 - Wiley Online Library
Introduction Cerebral autosomal‐dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL) is a relatively common cerebral small vessel disease …

[HTML][HTML] Epidermal growth factor receptors in vascular endothelial cells contribute to functional hyperemia in the brain

HR Ferris, NC Stine, DC Hill-Eubanks… - International Journal of …, 2023 - mdpi.com
Functional hyperemia—activity-dependent increases in local blood perfusion—underlies the
on-demand delivery of blood to regions of enhanced neuronal activity, a process that is …

[HTML][HTML] Complex changes in the efficiency of the expression of many genes in monogenic diseases, mucopolysaccharidoses, may arise from significant disturbances …

Z Cyske, L Gaffke, K Pierzynowska, G Węgrzyn - Genes, 2022 - mdpi.com
Monogenic diseases are primarily caused by mutations in a single gene; thus, they are
commonly recognized as genetic disorders with the simplest mechanisms. However, recent …

Evidence of beta amyloid independent small vessel disease in familial Alzheimer's disease

JL Littau, L Velilla, Y Hase… - Brain …, 2022 - Wiley Online Library
We studied small vessel disease (SVD) pathology in Familial Alzheimer's disease (FAD)
subjects carrying the presenilin 1 (PSEN1) p. Glu280Ala mutation in comparison to those …

Notch signaling in vascular endothelial and mural cell communications

M O'Hare… - Cold Spring …, 2022 - perspectivesinmedicine.cshlp.org
The Notch signaling pathway is a highly versatile and evolutionarily conserved mechanism
with an important role in cell fate determination. Notch signaling plays a vital role in vascular …

[HTML][HTML] 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 …

[HTML][HTML] The neurovascular unit in leukodystrophies: Towards solving the puzzle

P Zarekiani, H Nogueira Pinto, EM Hol… - Fluids and barriers of the …, 2022 - Springer
The neurovascular unit (NVU) is a highly organized multicellular system localized in the
brain, formed by neuronal, glial (astrocytes, oligodendrocytes, and microglia) and vascular …