Results 1 to 10 of about 1,249 (112)

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.
Brendan Gongol, Carlo Ballatore, Alexandre R Gingras   +2 more
exaly   +2 more sources

kri-1/KRIT1 promotes innate immune and lipid homeostasis in the C. elegans intestine. [PDF]

PLoS Genetics
Animals must differentially allocate essential metabolic resources in response to changing environmental conditions to ensure reproductive success. For example, adult C.
Akshay Alaghatta, Samantha Y Tse-Kang, Daniel P Bollen, Khursheed A Wani, Nicholas D Peterson, Read Pukkila-Worley   +5 more
doaj   +2 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   +2 more sources

Pediatric Familial Cerebral Cavernous Malformation Associated With a Novel KRIT1 Initiation‐Region Frameshift Variant [PDF]

Molecular Genetics & Genomic Medicine
Background Familial cerebral cavernous malformation (CCM) is an autosomal dominant vascular disorder with age‐dependent penetrance and marked intrafamilial variability.
Özlem Yayıcı Köken, Mehpare Sarı Yanartaş, Hande Aygün, Ahmet Cevdet Ceylan, Kamil Karaali, Mehmet Saim Kazan   +5 more
doaj   +2 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.
Anna Maria Salzano, Andrea Perrelli, Giovanni Principato   +2 more
exaly   +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   +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 ...
Marco Biggiogera
exaly   +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 ...
Iza Erzar
exaly   +3 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   +1 more source

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   +1 more source