Results 41 to 50 of about 1,864 (178)

KRIT1: A Traffic Warden at the Busy Crossroads Between Redox Signaling and the Pathogenesis of Cerebral Cavernous Malformation Disease

open access: yesAntioxidants and Redox Signaling, 2022
Significance: KRIT1 (Krev interaction trapped 1) is a scaffolding protein that plays a critical role in vascular morphogenesis and homeostasis.
A. Perrelli   +4 more
semanticscholar   +1 more source

Mechanism for KRIT1 Release of ICAP1-Mediated Suppression of Integrin Activation [PDF]

open access: yesMolecular Cell, 2013
KRIT1 (Krev/Rap1 Interaction Trapped-1) mutations are observed in ∼40% of autosomal-dominant cerebral cavernous malformations (CCMs), a disease occurring in up to 0.5% of the population. We show that KRIT1 functions as a switch for β1 integrin activation by antagonizing ICAP1 (Integrin Cytoplasmic Associated Protein-1)-mediated modulation of "inside ...
Liu, Weizhi   +4 more
openaire   +5 more sources

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

open access: yeseLife, 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   +5 more
doaj   +1 more source

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

open access: yesPLoS 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   +5 more
doaj   +1 more source

Clinicoradiologic data of familial cerebral cavernous malformation with age‐related disease burden

open access: yesAnnals of Clinical and Translational Neurology, 2023
Objective Familial cerebral cavernous malformation (FCCM) is an autosomal dominant disease induced by loss‐of‐function mutations in three CCM genes, KRIT1, CCM2, and PDCD10.
Seondeuk Kim   +8 more
doaj   +1 more source

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

open access: yesEuropean 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   +1 more source

Identification of a Novel CCM1 Frameshift Mutation in a Chinese Han Family With Multiple Cerebral Cavernous Malformations

open access: yesFrontiers in Neuroscience, 2020
Cerebral cavernous malformations (CCMs) are vascular lesions that predominantly occur in the brain. CCMs can be sporadic or hereditary in an autosomal dominant manner. The genes harboring variants of familial CCMs (FCCMs) include CCM1/KRIT1, CCM2/MGC4607,
Fan Zhang   +10 more
doaj   +1 more source

KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants

open access: yesJournal of Molecular Neuroscience, 2021
Cerebral cavernous malformations (CCMs) are vascular malformations that may result in headaches, seizures, focal neurological deficits, and hemorrhage. CCMs occur sporadically (80%) or in familial form (20%), with autosomal dominant inheritance.
C. Ricci   +4 more
semanticscholar   +1 more source

Contribution of protein–protein interactions to the endothelial-barrier-stabilizing function of KRIT1

open access: yesJournal of Cell Science, 2021
Krev-interaction trapped protein 1 (KRIT1) is an endothelial scaffold protein that promotes adherens junction (AJ) stability. The precise mechanism by which KRIT1 promotes barrier stabilization is unclear.
Harsha Swamy, A. Glading
semanticscholar   +1 more source

Phospholipase Cε Modulates Rap1 Activity and the Endothelial Barrier. [PDF]

open access: yesPLoS ONE, 2016
The phosphoinositide-specific phospholipase C, PLCε, is a unique signaling protein with known roles in regulating cardiac myocyte growth, astrocyte inflammatory signaling, and tumor formation. PLCε is also expressed in endothelial cells, however its role
Peter V DiStefano   +2 more
doaj   +1 more source

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