Results 1 to 10 of about 1,864 (178)

Inhibition of the HEG1–KRIT1 interaction increases KLF4 and KLF2 expression in endothelial cells

FASEB BioAdvances, 2021
The transmembrane protein heart of glass1 (HEG1) directly binds to and recruits Krev interaction trapped protein 1 (KRIT1) to endothelial junctions to form the HEG1–KRIT1 protein complex that establishes and maintains junctional integrity.
Matthew Bautista, Brendan Gongol, Carlo Ballatore   +2 more
exaly   +3 more sources

Dual recruitment of two CCM2 molecules to KRIT1 suppresses KLF4 expression [PDF]

Nature Communications
Regulated expression of Kruppel like factor (KLF) transcription factors is essential for normal maintenance of endothelial cells, but loss of either K-Rev interaction trapped 1 (KRIT1) or cerebral cavernous malformations 2 (CCM2) proteins results in ...
Clotilde Huet-Calderwood, Oriana S. Fisher, Sreya Das, Valerie L. Su, Titus J. Boggon, David A. Calderwood   +5 more
doaj   +3 more sources

PTEN/PKM2/ERα-Driven Glyoxalase 1 Overexpression Sustains PC3 Prostate Cancer Cell Growth Through MG-H1/RAGE Pathway Desensitization Leading to H₂O₂-Dependent KRIT1 Downregulation [PDF]

Antioxidants
Glyoxalase 1 (Glo1) functions as a catalyst that neutralizes methylglyoxal (MG), a highly reactive glycating agent predominantly produced during glycolysis—a metabolic pathway upregulated in cancer cells.
Dominga Manfredelli, Camilla Torcoli, Marilena Pariano, Guido Bellezza, Tiziano Baroni, Vincenzo N. Talesa, Angelo Sidoni, Cinzia Antognelli   +7 more
doaj   +3 more sources

KRIT1 heterozygous mutations are sufficient to induce a pathological phenotype in patient-derived iPSC models of cerebral cavernous malformation

Cell Reports
Summary: Cerebral cavernous malformation (CCM) is a neurovascular disease distinguished by clusters of leaky, mulberry-like blood vessels. KRIT1 bi-allelic loss-of-function mutations in endothelial cells are known to trigger brain cavernomas; however ...
Maximiliano Arce, Iza Erzar, Fan Yang, Neeharika Senthilkumar, Favour C. Onyeogaziri, Dario Ronchi, Frida C. Ahlstrand, Nora Noll, Roberta Lugano, Mark Richards, Elisa Scola, Monica Corada, Francesca Lazzaroni, Linda Meggiolaro, Jens Schuster, Niklas Dahl, Mika Niemelä, Behnam Rezai Jahromi, Anna Dimberg, Silvia Lanfraconi, Roberto Latini, Peetra U. Magnusson   +21 more
exaly   +4 more sources

KRIT1 Loss-Of-Function Associated with Cerebral Cavernous Malformation Disease Leads to Enhanced S-Glutathionylation of Distinct Structural and Regulatory Proteins

Antioxidants, 2019
Loss-of-function mutations in the KRIT1 gene are associated with the pathogenesis of cerebral cavernous malformations (CCMs), a major cerebrovascular disease still awaiting therapies.
Laura Cianfruglia, Andrea Perrelli, Alessandro Magini   +2 more
exaly   +4 more sources

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

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

Disseminated cavernous malformations due to KRIT1 gene mutation causing seizure and spastic paraparesis [PDF]

Annals of Indian Academy of Neurology, 2023
Saranya B Gomathy, Animesh Das, Ajay Garg, Achal K Srivastava   +3 more
doaj   +3 more sources

Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view

Frontiers in Neuroscience, 2023
Cerebral cavernous malformations (CCMs) are common vascular anomaly diseases in the central nervous system associated with seizures, cerebral microbleeds, or asymptomatic mostly.
Yanming Chen, Xuchen Dong, Ye Wang, Haijun Lv, Nan Chen, Zhongyong Wang, Si Chen, Ping Chen, Sheng Xiao, Jizong Zhao, Jizong Zhao, Jizong Zhao, Jun Dong   +12 more
doaj   +2 more sources

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, Aihua Ye, Weibiao Ye, Xiaomin Liao, Guoqiang Qin, Yongqiang Xu, Yuting Yin, Huanqian Luo, Muhua Yi, Liying Xian, Shihao Zhang, Xiyuan Qin, Wei Zhu, Yuling Li   +13 more
doaj   +2 more sources

Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene. [PDF]

Neurogenetics
The detection of complex structural variants in patients with familial cerebral cavernous malformations (FCCM) remains challenging. Short-read whole genome sequencing was performed for a patient with strong clinical evidence of FCCM but negative results ...
Pilz RA, Begemann M, Pfister S, Boonsawat P, Rauch A, Kurth I, Felbor U, Rath M.   +7 more
europepmc   +2 more sources