Notch signaling pathway: architecture, disease, and therapeutics

B Zhou, W Lin, Y Long, Y Yang, H Zhang… - Signal transduction and …, 2022 - nature.com
The NOTCH gene was identified approximately 110 years ago. Classical studies have
revealed that NOTCH signaling is an evolutionarily conserved pathway. NOTCH receptors …

Notch signaling in development, tissue homeostasis, and disease

C Siebel, U Lendahl - Physiological reviews, 2017 - journals.physiology.org
Notch signaling is an evolutionarily highly conserved signaling mechanism, but in contrast to
signaling pathways such as Wnt, Sonic Hedgehog, and BMP/TGF-β, Notch signaling occurs …

Perivascular spaces, glymphatic dysfunction, and small vessel disease

H Mestre, S Kostrikov, RI Mehta… - Clinical …, 2017 - portlandpress.com
Cerebral small vessel diseases (SVDs) range broadly in etiology but share remarkably
overlapping pathology. Features of SVD including enlarged perivascular spaces (EPVS) …

Therapeutic modulation of Notch signalling—are we there yet?

ER Andersson, U Lendahl - Nature reviews Drug discovery, 2014 - nature.com
The Notch signalling pathway is evolutionarily conserved and is crucial for the development
and homeostasis of most tissues. Deregulated Notch signalling leads to various diseases …

A vessel for change: endothelial dysfunction in cerebral small vessel disease

S Quick, J Moss, RM Rajani, A Williams - Trends in neurosciences, 2021 - cell.com
The blood vessels of the brain are lined with endothelial cells and it has been long known
that these help to regulate blood flow to the brain. However, there is increasing evidence …

Consensus statement for diagnosis of subcortical small vessel disease

GA Rosenberg, A Wallin, JM Wardlaw… - Journal of Cerebral …, 2016 - journals.sagepub.com
Vascular cognitive impairment (VCI) is the diagnostic term used to describe a
heterogeneous group of sporadic and hereditary diseases of the large and small blood …

The developmental biology of genetic Notch disorders

J Mašek, ER Andersson - Development, 2017 - journals.biologists.com
Notch signaling regulates a vast array of crucial developmental processes. It is therefore not
surprising that mutations in genes encoding Notch receptors or ligands lead to a variety of …

Cadasil and Carasil

S Tikka, M Baumann, M Siitonen, P Pasanen… - Brain …, 2014 - Wiley Online Library
CADASIL and CARASIL are hereditary small vessel diseases leading to vascular dementia.
CADASIL commonly begins with migraine followed by minor strokes in mid‐adulthood …

Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL

JW Rutten, HG Dauwerse, G Gravesteijn… - Annals of clinical …, 2016 - Wiley Online Library
Objective To determine the frequency of distinctive EGF r cysteine altering NOTCH 3
mutations in the 60,706 exomes of the exome aggregation consortium (Ex AC) database …

PIP2 corrects cerebral blood flow deficits in small vessel disease by rescuing capillary Kir2.1 activity

F Dabertrand, OF Harraz, M Koide… - Proceedings of the …, 2021 - National Acad Sciences
Cerebral small vessel diseases (SVDs) are a central link between stroke and dementia—two
comorbidities without specific treatments. Despite the emerging consensus that SVDs are …