Results 11 to 20 of about 1,269 (145)

KRIT1 regulates the homeostasis of intracellular reactive oxygen species. [PDF]

PLoS ONE, 2010
KRIT1 is a gene responsible for Cerebral Cavernous Malformations (CCM), a major cerebrovascular disease characterized by abnormally enlarged and leaky capillaries that predispose to seizures, focal neurological deficits, and fatal intracerebral ...
Luca Goitre, Fiorella Balzac, Simona Degani, Paolo Degan, Saverio Marchi, Paolo Pinton, Saverio Francesco Retta   +6 more
doaj   +2 more sources

Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral cavernous malformation [PDF]

Frontiers in Oncology, 2023
Cerebral cavernous malformation (CCM) is a vascular malformation of the central nervous system and mainly characterized by enlarged capillary cavities without intervening brain parenchyma. Genetic studies have identified three disease-causing genes (CCM1/
Zhenxing Liu, Kaikai Guo, Xuebin Hu, Xianqin Zhang   +3 more
doaj   +2 more sources

Unexpected distribution of KRIT1 inside the nucleus: new insight in a complex molecular pathway

European Journal of Histochemistry, 2014
KRIT1 is an 84kDa protein that lacks any relevant catalytic domains, associated with the cerebral cavernous malformation disease. We have investigated by means of ultrastructural immunocytochemistry the nuclear distribution of KRIT1 in different cell ...
S. Marzo, V. Galimberti, M. Biggiogera
doaj   +2 more sources

Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives. [PDF]

J Neurochem
Cerebral cavernous malformations (CCMs) are vascular lesions in the brain caused by inherited genetic mutations in the CCM1/2/3 genes that disrupt normal blood vessel function. This work demonstrates that these mutations lead to endothelial dysfunction, inflammation, and iron accumulation, which can be detected by magnetic resonance imaging (MRI) and ...
Fontes-Dantas FL, da Fontoura Galvão G, Cunha AM, de Sena Murteira Pinheiro P, Morandi V, de Souza JM.   +5 more
europepmc   +2 more sources

Structural Basis for Small G Protein Effector Interaction of Ras-related Protein 1 (Rap1) and Adaptor Protein Krev Interaction Trapped 1 (KRIT1) [PDF]

Journal of Biological Chemistry, 2012
Cerebral cavernous malformations (CCMs) affect 0.1-0.5% of the population resulting in leaky vasculature and severe neurological defects. KRIT1 (Krev interaction trapped-1) mutations associate with ∼40% of familial CCMs. KRIT1 is an effector of Ras-related protein 1 (Rap1) GTPase.
Wanshun Liu, David A Calderwood, Titus J Boggon   +2 more
exaly   +3 more sources

Circumferential actomyosin bundles anchored by CCM1 drive endothelial cell contraction and vessel constriction [PDF]

Nature Communications
Blood vessels undergo extensive remodelling to acquire appropriate diameters, yet how endothelial cells coordinate changes in their number and shape to achieve this remains unclear.
Yan Chen, Nuria Taberner, Jason da Silva, Vivek Semwal, Biplab Bhattacherjee, Julia Eckert, Igor Kondrychyn, Mingzhao Hu, Nitish Aswani, Guihua Chen, Yasushi Okada, Anne Karine Lagendijk, Tatsuo Shibata, Satoru Okuda, Li-Kun Phng   +14 more
doaj   +2 more sources

ANKS1B Interacts with the Cerebral Cavernous Malformation Protein-1 and Controls Endothelial Permeability but Not Sprouting Angiogenesis.

PLoS ONE, 2015
Cerebral cavernous malformations are fragile blood vessel conglomerates in the central nervous system that are caused by mutations in the CCM1/KRIT1, CCM2 or CCM3 genes.
Stefanie E Herberich, Ralph Klose, Iris Moll, Wan-Jen Yang, Joycelyn Wüstehube-Lausch, Andreas Fischer   +5 more
doaj   +2 more sources

Cerebral Cavernous Malformation: From Genetics to Pharmacotherapy. [PDF]

Brain Behav
CCM1, CCM2, CCM3, MAP3K3, and PIK3CA genes mediate CCM pathogenesis by regulating the RhoA–ROCK, MAP3K3–KLF2/4, and PIK3CA–AKT–mTOR pathways, affecting processes such as cell migration, intercellular junctions, cell proliferation, inflammation, autophagy, EndMT, angiogenesis, and oxidative stress.
Zhang Z, Deng J, Sun W, Wang Z.
europepmc   +2 more sources

Heg1 and Ccm1/2 proteins control endocardial mechanosensitivity during zebrafish valvulogenesis

eLife, 2018
Endothelial cells respond to different levels of fluid shear stress through adaptations of their mechanosensitivity. Currently, we lack a good understanding of how this contributes to sculpting of the cardiovascular system.
Stefan Donat, Marta Lourenço, Alessio Paolini, Cécile Otten, Marc Renz, Salim Abdelilah-Seyfried   +5 more
doaj   +2 more sources

Targeted Therapies for Slow-Flow Vascular Malformations. [PDF]

Australas J Dermatol
ABSTRACT Advances in genetic sequencing technologies have enabled the identification of key activating somatic variants in cellular signalling pathways involved in the pathogenesis of vascular malformations. Given that these genetic variants are also implicated in the pathogenesis of several cancers, the repurposing of targeted therapies developed in ...
Li GX, Sebaratnam DF, Pham JP.
europepmc   +2 more sources