Articles with "krit1" as a keyword



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Protein kinase Cα (PKCα) regulates the nucleocytoplasmic shuttling of KRIT1.

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Published in 2020 at "Journal of cell science"

DOI: 10.1242/jcs.250217

Abstract: KRIT1 is a scaffolding protein that regulates multiple molecular mechanisms, including cell-cell and cell-matrix adhesion and redox homeostasis and signaling. However, rather little is known about how KRIT1 is itself regulated. KRIT1 is found in… read more here.

Keywords: kinase pkc; nucleocytoplasmic shuttling; krit1; protein kinase ... See more keywords
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Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral cavernous malformation

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Published in 2023 at "Frontiers in Oncology"

DOI: 10.3389/fonc.2023.1141488

Abstract: 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/KRIT1, CCM2/MGC4607 and CCM3/PDCD10)… read more here.

Keywords: malformation; novel heterozygous; cavernous malformation; krit1 ... See more keywords
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Heterozygous Loss of KRIT1 in Mice Affects Metabolic Functions of the Liver, Promoting Hepatic Oxidative and Glycative Stress

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Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms231911151

Abstract: KRIT1 loss-of-function mutations underlie the pathogenesis of Cerebral Cavernous Malformation (CCM), a major vascular disease affecting the central nervous system (CNS). However, KRIT1 is also expressed outside the CNS and modulates key regulators of metabolic… read more here.

Keywords: heterozygous loss; metabolic functions; krit1; krit1 mice ... See more keywords