KRIT1 regulates the homeostasis of intracellular reactive oxygen species.
PLoS ONE, 2010 KRIT1 is a gene responsible for Cerebral Cavernous Malformations (CCM), a major cerebrovascular disease characterized by abnormally enlarged and leaky capillaries that predispose to seizures, focal neurological deficits, and fatal intracerebral ...
Luca Goitre +6 more
doaj +1 more source
Small GTPase Rap1 Is Essential for Mouse Development and Formation of Functional Vasculature [PDF]
, 2015 BACKGROUND: Small GTPase Rap1 has been implicated in a number of basic cellular functions, including cell-cell and cell-matrix adhesion, proliferation and regulation of polarity.
Chrzanowska-Wodnicka, Magdalena +3 more
core +2 more sources
Mutation prevalence of cerebral cavernous malformation genes in Spanish patients [PDF]
, 2017 [Objective] To study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort of Spanish patients.[Methods] We analyzed the CCM1, CCM2, and CCM3 genes by MLPA and direct sequencing of exons and intronic boundaries
Delgado-Valverde, Mercedes +9 more
core +1 more source
Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation
Case Reports in Neurology, 2016 Introduction: Cerebral cavernous malformation (CCM) is a vascular disorder characterized by the presence of central nervous system cavernomas. In familial forms, mutations in three genes (CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10) were identified.
João Pedro Marto +3 more
doaj +1 more source
Structures of Ras superfamily effector complexes: What have we learnt in two decades? [PDF]
, 2015 The Ras superfamily small G proteins are master regulators of a diverse range of cellular processes and act via downstream effector molecules. The first structure of a small G protein-effector complex, that of Rap1A with c-Raf1, was published 20 years ...
Mott, Helen R, Owen, Darerca
core +1 more source
Intracerebral Hemorrhage and Ischemic Stroke of Different Etiologies Have Distinct Alternatively Spliced mRNA Profiles in the Blood: a Pilot RNA-seq Study. [PDF]
, 2015 Whole transcriptome studies have used 3'-biased expression microarrays to study genes regulated in the blood of stroke patients. However, alternatively spliced messenger RNA isoforms have not been investigated for ischemic stroke or intracerebral ...
Ander, Bradley P +8 more
core +2 more sources
Genetically diagnosed Birt-Hogg-Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report. [PDF]
, 2016 When faced with an unusual clinical feature in a patient with a Mendelian disorder, the clinician may entertain the possibilities of either the feature representing a novel manifestation of that disorder or the co-existence of a different inherited ...
Skytte, Anne-Bine +2 more
core +2 more sources
Cardiovascular Diabetology, 2018 Background Antioxidant enzymes play a fundamental role in counteracting oxidative stress induced by high glucose. Although mitochondrial superoxide dismutase (SOD2) is the principal defence against the toxicity of superoxide anions, the mechanism of its ...
Lucia La Sala +4 more
doaj +1 more source
KRIT1 loss-of-function induces a chronic Nrf2-mediated adaptive homeostasis that sensitizes cells to oxidative stress: Implication for Cerebral Cavernous Malformation disease [PDF]
, 2018 KRIT1 (CCM1) is a disease gene responsible for Cerebral Cavernous Malformations (CCM), a major cerebrovascular disease of proven genetic origin affecting 0.3â0.5% of the population.
Angelucci A3 +12 more
core +6 more sources
Frontiers in Surgery, 2016 Mutations in the genes KRIT1, CCM2, and PDCD10 are known to result in the formation of cerebral cavernous malformations (CCMs). CCMs are intracranial lesions comprised of aberrantly enlarged cavernous endothelial channels that can result in cerebral ...
Jacob F. Baranoski +2 more
doaj +1 more source