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(ion channel disease)
37,479 results
  • Targeting Proteases in Cystic Fibrosis Lung Disease: Paradigms, Progress, and Potential. [Journal Article]
    Am J Respir Crit Care Med 2019McKelvey MC, Weldon S, … Taggart CC
  • Cystic fibrosis (CF) is the most common life-limiting hereditary condition of Caucasian populations and is characterised by chronic airways inflammation driving progressive structural lung damage. Despite tremendous advances in the treatment of CF and concomitant increased life expectancy for patients, chronic lung disease remains the main cause of morbidity and mortality among CF patients. While…
  • Pathogenesis of hypertension in a mouse model for human CLCN2 related hyperaldosteronism. [Journal Article]
    Nat Commun 2019; 10(1):4678Göppner C, Orozco IJ, … Jentsch TJ
  • Human primary aldosteronism (PA) can be caused by mutations in several ion channel genes but mouse models replicating this condition are lacking. We now show that almost all known PA-associated CLCN2 mutations markedly increase ClC-2 chloride currents and generate knock-in mice expressing a constitutively open ClC-2 Cl- channel as mouse model for PA. The Clcn2op allele strongly increases the chlo…
  • Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders. [Journal Article]
    Ann Neurol 2019Kang SK, Vanoye CG, … Kearney JA
  • CONCLUSIONS: Our study establishes a platform for rapid screening of KV 2.1 functional defects caused by KCNB1 variants associated with DEE and other NDDs. This will aid in establishing KCNB1 variant pathogenicity and the mechanism of dysfunction, which will enable targeted strategies for therapeutic intervention based on molecular phenotype. This article is protected by copyright. All rights reserved.
  • Altered oscillation frequencies in the lateral geniculate complex in the rat model of absence epilepsy. [Journal Article]
    Epilepsy Res 2019; 157:106212Chrobok L, Palus-Chramiec K, … Lewandowski MH
  • Absence epilepsy (AE) is a neurological disease that manifests in spike-wave discharges not present in healthy neuronal circuits. Mutations in ion channels directly underlying this rhythmic discharge may additionally affect rhythms in multiple brain centres which disturbances contribute to the epileptic phenotype. Malfunctioning of the light detection system (from retina to subcortical visual str…
  • A Perspective: Active Role of Lipids in Neurotransmitter Dynamics. [Review]
    Mol Neurobiol 2019Postila PA, Róg T
  • Synaptic neurotransmission is generally considered as a function of membrane-embedded receptors and ion channels in response to the neurotransmitter (NT) release and binding. This perspective aims to widen the protein-centric view by including another vital component-the synaptic membrane-in the discussion. A vast set of atomistic molecular dynamics simulations and biophysical experiments indicat…
  • Stimulation of Piezo1 by mechanical signals promotes bone anabolism. [Journal Article]
    Elife 2019; 8Li X, Han L, … Xiong J
  • Mechanical loading, such as caused by exercise, stimulates bone formation by osteoblasts and increases bone strength, but the mechanisms are poorly understood. Osteocytes reside in bone matrix, sense changes in mechanical load, and produce signals that alter bone formation by osteoblasts. We report that the ion channel Piezo1 is required for changes in gene expression induced by fluid shear stres…
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