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The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Additionally we are shipping Chloride Channel 1, Skeletal Muscle Kits (11) and Chloride Channel 1, Skeletal Muscle Proteins (7) and many more products for this protein.
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Data show that Muscleblind-like 1 (Mbnl1 (show MBNL1 Antibodies)) and Muscleblind-Like 3 (Mbnl3 (show MBNL3 Antibodies)) bind skeletal muscle chloride channel (show CLCA1 Antibodies) CIC-1 (Clc-1) mRNA.
Sex hormones at high concentration can rapidly modulate ClC-1 in mouse skeletal muscle fibers in vitro.
Myotonia (delayed muscle relaxation) is the most commonly observed symptom in DM1 patients and is caused by aberrant splicing of the skeletal muscle chloride channel (show CLCA1 Antibodies) (CLCN1) gene
Myotonia in adult human skeletal actin transgenic mice may be explained on the basis of a mosaic expression of ClC-1 channels in different fibres and/or on alterations of other conductances.
The expression of the muscle chloride channel (show CLCA1 Antibodies), ClC-1, in Huntington disease (show HTT Antibodies) muscle was compromised by improper splicing and a corresponding reduction in total Clcn1 (gene for ClC-1) mRNA.
the majority of functional ClC-1 channels localize to the sarcolemma and provide essential insight into the basis of myofiber excitability in normal and diseased skeletal muscle.
Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel (show CLCA1 Antibodies) pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy
The A331T mutation causes an unprecedented alteration of ClC-1 gating and reveals novel processes defining transitions between open and closed states in ClC (show CLC Antibodies) chloride channels
A distinct autosomal recessive myotonic mouse in the C57BL/6 background (line B6MT)is reported in which the Clc-1 gene shows polymorphism with no functional consequences.
CLC-1 deficiency not only affects muscle relaxation (myotonia) but also modulates diaphragm performance during the contractile phase of the contraction-relaxation cycle
the spectrum of CLCN1 mutations in patients with Myotonia Congenita
Combining our results with the literature on Chinese populations indicates that 21 mutations in CLCN1 have been associated with myotonia congenital, while 7 mutations in SCN4A (show SCN4A Antibodies) have been associated with paramyotonia congenita, 2 mutations in SCN4A (show SCN4A Antibodies) have been associated with sodium channel myotonias.
report a novel ClC-1 mutation, T335N, that is associated with a mild phenotype
The present study is the first demonstration of ClC-1 regulation in active human muscle, and it provides a detailed description of the involvement of PKC (show PRRT2 Antibodies) and ClC-1 in the down-regulation of Gm during AP-firing activity in human skeletal muscle fibres
This study, novel mutations in CLCN1 were detected, and the spectrum of CLCN1 mutations known to be associated with MC was expanded.
our study confirms the presence of the myotonia causing CLCN1 mutations p.F167L and p.R105C in the Costa Rican population.
we characterized three other myotonic ClC-1 mutations.
In 4 patients (3 families) with recessive MC, 4 CLCN1 variants were found, 3 of which are new. c.244A>G (p.T82A) and c.1357C>T (p.R453W) were compound heterozygotes with c.568GG>TC (p.G190S). The new c.809G>T (p.G270V) was homozygous.
Our data are consistent with the idea that the CUL4A (show CUL4A Antibodies)/B-DDB1-CRBN (show CRBN Antibodies) complex catalyses the polyubiquitination and thus controls the degradation of CLC-1 channels.
investigated sequences of PRRT2 (show PRRT2 Antibodies) and CLCN1 in a proband diagnosed with paroxysmal kinesigenic dyskinesia and suspected myotonia congenita; the proband and his father harbored a PRRT2 (show PRRT2 Antibodies) c.649dupC mutation, and CLCN1 c.1723C>T and c.2492A>G mutations; first report showing the coexistence of PRRT2 (show PRRT2 Antibodies) and CLCN1 mutations
The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants.
chloride channel 1, skeletal muscle
, chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
, chloride channel protein 1-like
, similar to chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
, arrested development of righting response
, chloride channel protein 1
, chloride channel protein, skeletal muscle
, chloride channel 1, skeletal muscle C-type
, skeletal muscle chloride channel 1
, skeletal muscle chloride channel ClC-1