Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
about
MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1Chloride channels as drug targets.Bateman domains and adenosine derivatives form a binding contractCBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutationsPurification, crystallization and preliminary X-ray diffraction analysis of the CBS-domain pair from the Methanococcus jannaschii protein MJ0100A novel mutation in CLCN1 associated with feline myotonia congenitaStructure of a eukaryotic CLC transporter defines an intermediate state in the transport cycleSingle Cystathionine -Synthase Domain-Containing Proteins Modulate Development by Regulating the Thioredoxin System in ArabidopsisConformational changes required for H+/Cl− exchange mediated by a CLC transporterRole of physiological ClC-1 Cl- ion channel regulation for the excitability and function of working skeletal muscleChannelopathies of skeletal muscle excitabilityCBS domains: structure, function, and pathology in human proteinsMyotonia congenita mutation enhances the degradation of human CLC-1 chloride channelsA cytoplasmic domain mutation in ClC-Kb affects long-distance communication across the membraneGenome wide expression analysis of CBS domain containing proteins in Arabidopsis thaliana (L.) Heynh and Oryza sativa L. reveals their developmental and stress regulationPurification, crystallization and preliminary crystallographic analysis of protein MJ1225 from Methanocaldococcus jannaschii, a putative archaeal homologue of gamma-AMPKFatigue-inducing stimulation resolves myotonia in a drug-induced model.CLC channels and transporters: proteins with borderline personalities.Bench-to-bedside review: Chloride in critical illnessChloride currents from the transverse tubular system in adult mammalian skeletal muscle fibers.Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscleNonsense-mediated decay in genetic disease: friend or foe?CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channelAn analysis of the relationships between subthreshold electrical properties and excitability in skeletal muscle.ClC-1 chloride channels: state-of-the-art research and future challenges.Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotoniaThe Cullin 4A/B-DDB1-Cereblon E3 Ubiquitin Ligase Complex Mediates the Degradation of CLC-1 Chloride ChannelsStructural basis for ion conduction and gating in ClC chloride channels.The Effects of the KCNQ Openers Retigabine and Flupirtine on Myotonia in Mammalian Skeletal Muscle Induced by a Chloride Channel Blocker.Ion channel development, spontaneous activity, and activity-dependent development in nerve and muscle cells.Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy.The mechanism of fast-gate opening in ClC-0.CLC anion channel regulatory phosphorylation and conserved signal transduction domainsThe muscle chloride channel ClC-1 is not directly regulated by intracellular ATPDominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1Cysteine accessibility in ClC-0 supports conservation of the ClC intracellular vestibuleNonsense-mediated mRNA decay modulates clinical outcome of genetic disease.ClC-1 chloride channel: Matching its properties to a role in skeletal muscle.Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy.Myotonia congenita: novel mutations in CLCN1 gene
P2860
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P2860
Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
description
2002 nî lūn-bûn
@nan
2002 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
@ast
Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
@en
Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
@nl
type
label
Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
@ast
Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
@en
Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
@nl
prefLabel
Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
@ast
Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
@en
Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
@nl
P356
P1433
P1476
Myotonia caused by mutations in the muscle chloride channel gene CLCN1
@en
P2093
Michael Pusch
P304
P356
10.1002/HUMU.10063
P577
2002-04-01T00:00:00Z