Heart of glass anchors Rasip1 at endothelial cell-cell junctions to support vascular integrity. [PDF]
, 2016 Heart of Glass (HEG1), a transmembrane receptor, and Rasip1, an endothelial-specific Rap1-binding protein, are both essential for cardiovascular development.
de Kreuk, Bart-Jan +5 more
core +2 more sources
KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis [PDF]
Human Molecular Genetics, 2002 Mutations in KRIT1, a protein initially identified based on a yeast two-hybrid interaction with the RAS-family GTPase RAP1A, are responsible for the development of the inherited vascular disorder cerebral cavernous malformations (CCM1). As the function of the KRIT1 protein and its role in CCM pathogenesis remain unknown, we performed yeast two-hybrid ...
Jon S, Zawistowski +4 more
openaire +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 +5 more
doaj +1 more source
Spatial Mechano‐Signaling Regulation of GTPases through Non‐Degradative Ubiquitination
Advanced Science, Volume 10, Issue 36, December 27, 2023., 2023 An integrative ubiquitinome and proteome analysis demonstrates that the non‐degradative ubiquitination of several GTPases is regulated by mechano‐signaling. Spatial analysis reveals RAP1 ubiquitination specifically in the descending aorta, a region exposed to laminar shear stress.
Raj N. Sewduth +10 more
wiley +1 more source
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 +5 more
doaj +1 more source
A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation
Frontiers in Neurology, 2020 Cerebral cavernous malformations (CCMs) are the second most prevalent type of vascular malformation within the central nervous system. CCMs occur in two forms—sporadic and familial—the latter of which has an autosomal dominant mode of inheritance with ...
Lipeng Yang, Jian Wu, Jing Zhang
doaj +1 more source
A Case Report and Overview of Familial Cerebral Cavernous Malformation Pathogenesis in an Adult Patient [PDF]
, 2018 OBJECTIVE We present a case of a 39 year-old woman who presented with a solitary cavernous malformation hemorrhage without any other lesions, and subsequently presented several months later with a new hemorrhage from a de novo lesion.
Arul, BS, Manu K. +2 more
core +2 more sources
Defining bone fide effectors of RAS GTPases
BioEssays, Volume 45, Issue 9, September 2023., 2023 RAS GTPases transmit extracellular signals to multiple intracellular signalling pathways through direct interaction with effector proteins. These proteins typically employ RAS‐binding RBD domains to complex with activated GTPases, but the specificity of these interactions remains poorly explored and there remain few data describing the mechanistic ...
Matthew J. Smith
wiley +1 more source
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 +1 more source
Impaired retinoic acid signaling in cerebral cavernous malformations
Scientific Reports, 2023 The capillary-venous pathology cerebral cavernous malformation (CCM) is caused by loss of CCM1/Krev interaction trapped protein 1 (KRIT1), CCM2/MGC4607, or CCM3/PDCD10 in some endothelial cells.
Nastasja Grdseloff +9 more
doaj +1 more source