Cerebral cavernous malformation: from mechanism to therapy

DA Snellings, CC Hong, AA Ren… - Circulation …, 2021 - Am Heart Assoc
Cerebral cavernous malformations are acquired vascular anomalies that constitute a
common cause of central nervous system hemorrhage and stroke. The past 2 decades have …

Childhood stroke

PB Sporns, HJ Fullerton, S Lee, H Kim, WD Lo… - Nature Reviews …, 2022 - nature.com
Stroke is an important cause of neurological morbidity in children; most survivors have
permanent neurological deficits that affect the remainder of their life. Stroke in childhood, the …

Cerebral cavernous malformations arise from endothelial gain of MEKK3–KLF2/4 signalling

Z Zhou, AT Tang, WY Wong, S Bamezai, LM Goddard… - Nature, 2016 - nature.com
Cerebral cavernous malformations (CCMs) are common inherited and sporadic vascular
malformations that cause strokes and seizures in younger individuals. CCMs arise from …

STRIPAK complexes: structure, biological function, and involvement in human diseases

J Hwang, DC Pallas - The international journal of biochemistry & cell …, 2014 - Elsevier
The mammalian striatin family consists of three proteins, striatin, S/G 2 nuclear autoantigen,
and zinedin. Striatin family members have no intrinsic catalytic activity, but rather function as …

The neurovascular link in health and disease: molecular mechanisms and therapeutic implications

A Quaegebeur, C Lange, P Carmeliet - Neuron, 2011 - cell.com
At first sight, the nervous and vascular systems seem to share little in common. However,
neural and vascular cells not only are anatomically closely tied to each other, but they also …

KLF 4 is a key determinant in the development and progression of cerebral cavernous malformations

R Cuttano, N Rudini, L Bravi, M Corada… - EMBO molecular …, 2016 - embopress.org
Cerebral cavernous malformations (CCM s) are vascular malformations located within the
central nervous system often resulting in cerebral hemorrhage. Pharmacological treatment is …

Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis

A Fischer, J Zalvide, E Faurobert, C Albiges-Rizo… - Trends in molecular …, 2013 - cell.com
Cerebral cavernous malformations (CCMs) are vascular lesions that can occur sporadically
or as a consequence of inherited loss-of-function mutations, predominantly in the genes …

Strategy for identifying repurposed drugs for the treatment of cerebral cavernous malformation

CC Gibson, W Zhu, CT Davis, JA Bowman-Kirigin… - Circulation, 2015 - Am Heart Assoc
Background—Cerebral cavernous malformation (CCM) is a hemorrhagic stroke disease
affecting up to 0.5% of North Americans that has no approved nonsurgical treatment. A …

Cerebral cavernous malformations develop through clonal expansion of mutant endothelial cells

MR Detter, DA Snellings, DA Marchuk - Circulation research, 2018 - Am Heart Assoc
Rationale: Vascular malformations arise in vessels throughout the entire body. Causative
genetic mutations have been identified for many of these diseases; however, little is known …

Microphysiological model of PIK3CA-driven vascular malformations reveals a role of dysregulated Rac1 and mTORC1/2 in lesion formation

WY Aw, C Cho, H Wang, AH Cooper, EL Doherty… - Science …, 2023 - science.org
Somatic activating mutations of PIK3CA are associated with development of vascular
malformations (VMs). Here, we describe a microfluidic model of PIK3CA-driven VMs …