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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.
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Data show that Muscleblind-like 1 (Mbnl1 (zeige MBNL1 Antikörper)) and Muscleblind-Like 3 (Mbnl3 (zeige MBNL3 Antikörper)) bind skeletal muscle chloride channel (zeige CLCA1 Antikörper) 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 (zeige CLCA1 Antikörper) (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 (zeige CLCA1 Antikörper), ClC-1, in Huntington disease (zeige HTT Antikörper) 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 (zeige CLCA1 Antikörper) 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 (zeige CLC Antikörper) 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
Regulation of CLC-1 chloride channel (zeige CLCA1 Antikörper) biosynthesis by FKBP8 (zeige FKBP8 Antikörper) and Hsp90beta (zeige HSP90AB1 Antikörper) as a molecular model for myotonia congenita has been described.
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 (zeige SCN4A Antikörper) have been associated with paramyotonia congenita, 2 mutations in SCN4A (zeige SCN4A Antikörper) 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 (zeige PRRT2 Antikörper) 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 (zeige CUL4A Antikörper)/B-DDB1-CRBN (zeige CRBN Antikörper) complex catalyses the polyubiquitination and thus controls the degradation of CLC-1 channels.
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