KRIT1 , a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein [PDF]
Proceedings of the National Academy of Sciences, 2002 Mutations in Krev1 interaction trapped gene 1 ( KRIT1 ) cause cerebral cavernous malformation, an autosomal dominant disease featuring malformation of cerebral capillaries resulting in cerebral hemorrhage, strokes, and seizures. The biological functions of KRIT1 are unknown.
Murat, Gunel +7 more
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Signalling through cerebral cavernous malformation protein networks [PDF]
Open Biology, 2020 Cerebral cavernous malformations (CCMs) are neurovascular abnormalities characterized by thin, leaky blood vessels resulting in lesions that predispose to haemorrhages, stroke, epilepsy and focal neurological deficits.
Valerie L. Su, David A. Calderwood
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Two cases of familial cerebral cavernous malformation caused by mutations in the gene [PDF]
Korean Journal of Pediatrics, 2016 Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue.
Im-Yong Yang +5 more
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Mutations in the Gene Encoding KRIT1, a Krev-1/rap1a Binding Protein, Cause Cerebral Cavernous Malformations (CCM1) [PDF]
Human Molecular Genetics, 1999 Cerebral cavernous malformations (CCM) are congenital vascular anomalies of the brain that can cause significant neurological disabilities, including intractable seizures and hemorrhagic stroke. One locus for autosomal dominant CCM ( CCM1 ) maps to chromosome 7q21-q22.
T, Sahoo +19 more
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Cancer-secreted exosomal miR-21-5p induces angiogenesis and vascular permeability by targeting KRIT1
Cell Death and Disease, 2021 Cancer-secreted exosomes are critical mediators of cancer-host crosstalk. In the present study, we showed the delivery of miR-21-5p from colorectal cancer (CRC) cells to endothelial cells via exosomes increased the amount of miR-21-5p in recipient cells.
Qinglian He +13 more
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Is Location Everything? Regulation of the Endothelial CCM Signaling Complex
Frontiers in Cardiovascular Medicine, 2022 Recent advances have steadily increased the number of proteins and pathways known to be involved in the development of cerebral cavernous malformation (CCM).
Harsha Swamy, Angela J. Glading
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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.
Xiaofeng, Li +5 more
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Phospholipase Cε Modulates Rap1 Activity and the Endothelial Barrier. [PDF]
PLoS 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
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Cells, 2021 Cerebral cavernous malformations (CCMs) are vascular lesions that affect predominantly microvasculature in the brain and spinal cord. CCM can occur either in sporadic or familial form, characterized by autosomal dominant inheritance and development of ...
Giulia Riolo +2 more
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Structural Determinants for Binding of Sorting Nexin 17 (SNX17) to the Cytoplasmic Adaptor Protein Krev Interaction Trapped 1 (KRIT1) [PDF]
Journal of Biological Chemistry, 2014 Sorting nexin 17 (SNX17) is a member of the family of cytoplasmic sorting nexin adaptor proteins that regulate endosomal trafficking of cell surface proteins. SNX17 localizes to early endosomes where it directly binds NPX(Y/F) motifs in the cytoplasmic tails of its target receptors to mediate their rates of endocytic internalization, recycling, and/or ...
Amy L, Stiegler +3 more
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