Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies
about
Chloride channels as drug targets.Molecular targets for antiepileptic drug developmentRemoval of gating in voltage-dependent ClC-2 chloride channel by point mutations affecting the pore and C-terminus CBS-2 domainNucleotide recognition by the cytoplasmic domain of the human chloride transporter ClC-5The functioning of mammalian ClC-2 chloride channel in Saccharomyces cerevisiae cells requires an increased level of Kha1pDiscovery of CLC transport proteins: cloning, structure, function and pathophysiologySexually dimorphic expression of KCC2 and GABA function.A cytoplasmic domain mutation in ClC-Kb affects long-distance communication across the membraneEvaluation of the membrane-spanning domain of ClC-2Research and progress on ClC‑2 (Review).Mutations affecting GABAergic signaling in seizures and epilepsy.CLC channel function and dysfunction in health and disease.Genes associated with idiopathic epilepsies: a current overview.Binding of ATP to the CBS domains in the C-terminal region of CLC-1.Ion channels: function unravelled by dysfunction.Intracellular β-nicotinamide adenine dinucleotide inhibits the skeletal muscle ClC-1 chloride channel.GABA(A) receptors in normal development and seizures: friends or foes?Chloride channel ClC-2 is a key factor in the development of DSS-induced murine colitis.Chloride channelopathies of ClC-2.Cell biology and physiology of CLC chloride channels and transporters.ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.Chloride channel ClC- 2 enhances intestinal epithelial tight junction barrier function via regulation of caveolin-1 and caveolar trafficking of occludin.ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies.Putting the pieces together: a crystal clear window into CLC anion channel regulationDistinct gene expression profiles directed by the isoforms of the transcription factor neuron-restrictive silencer factor in human SK-N-AS neuroblastoma cells.Rapid recycling of ClC-2 chloride channels between plasma membrane and endosomes: role of a tyrosine endocytosis motif in surface retrieval.Voltage-dependent and -independent titration of specific residues accounts for complex gating of a ClC chloride channel by extracellular protons.Membrane cholesterol content modulates ClC-2 gating and sensitivity to oxidative stress.Two splice variants derived from a Drosophila melanogaster candidate ClC gene generate ClC-2-type Cl- channels.Functional complementation of truncated human skeletal-muscle chloride channel (hClC-1) using carboxyl tail fragments.Nucleotides bind to the C-terminus of ClC-5.A CBS domain-containing pyrophosphatase of Moorella thermoacetica is regulated by adenine nucleotides.Chloride channel ClC-2 modulates tight junction barrier function via intracellular trafficking of occludin.Intracellular regulation of human ClC-5 by adenine nucleotides.ClC-2 regulates mucosal barrier function associated with structural changes to the villus and epithelial tight junction.Cytoplasmic ATP-sensing domains regulate gating of skeletal muscle ClC-1 chloride channels.No evidence for a role of CLCN2 variants in idiopathic generalized epilepsyCLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and Physiology
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P2860
Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies
description
2004 nî lūn-bûn
@nan
2004 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Functional evaluation of human ...... opathic generalized epilepsies
@ast
Functional evaluation of human ...... opathic generalized epilepsies
@en
Functional evaluation of human ...... opathic generalized epilepsies
@nl
type
label
Functional evaluation of human ...... opathic generalized epilepsies
@ast
Functional evaluation of human ...... opathic generalized epilepsies
@en
Functional evaluation of human ...... opathic generalized epilepsies
@nl
prefLabel
Functional evaluation of human ...... opathic generalized epilepsies
@ast
Functional evaluation of human ...... opathic generalized epilepsies
@en
Functional evaluation of human ...... opathic generalized epilepsies
@nl
P2093
P2860
P1476
Functional evaluation of human ...... opathic generalized epilepsies
@en
P2093
Carlos A Flores
Francisco V Sepúlveda
Isabel Cornejo
L Pablo Cid
Yamil R Yusef
P2860
P356
10.1152/PHYSIOLGENOMICS.00070.2004
P407
P577
2004-09-16T00:00:00Z