Chloride Channel 1, Skeletal Muscle (CLCN1) ELISA Kits

Mouse (Murine) Chloride Channel 1, Skeletal Muscle (CLCN1) interaction partners

1. Data show that Muscleblind-like 1 (Mbnl1) and Muscleblind-Like 3 (Mbnl3) bind skeletal muscle chloride channel CIC-1 (Clc-1) mRNA.

2. Sex hormones at high concentration can rapidly modulate ClC-1 in mouse skeletal muscle fibers in vitro.

3. 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 (CLCN1) gene

4. 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.

5. The expression of the muscle chloride channel, ClC-1, in Huntington disease muscle was compromised by improper splicing and a corresponding reduction in total Clcn1 (gene for ClC-1) mRNA.

6. 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.

7. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy

8. The A331T mutation causes an unprecedented alteration of ClC-1 gating and reveals novel processes defining transitions between open and closed states in ClC chloride channels

9. 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.

10. CLC-1 deficiency not only affects muscle relaxation (myotonia) but also modulates diaphragm performance during the contractile phase of the contraction-relaxation cycle

11. alternative splicing is a posttranscriptional mechanism regulating chloride conductance during muscle development, and the chloride channelopathy in a transgenic mouse model of DM1 results from a failure to execute a splicing transition for CLCN1.

12. These results support a molecular mechanism for myotonia in myotonic dystrophy type 1 in which a reduction in both the number of functional sarcolemmal ClC-1 and maximal channel open probability.

13. Clc1 expression was dramatically decreased in Znf9+/- mice.

14. genetic CLC-1 chloride channel deficiency in mice not only produces myotonia but also substantially worsens the isotonic contractile performance of diaphragm muscle.

15. These observations indicate that the myotonia and chloride channelopathy observed in DM both result from abnormal alternative splicing of ClC-1

Human Chloride Channel 1, Skeletal Muscle (CLCN1) interaction partners

1. This study improves our understanding of the mechanisms underlying MC, sheds light on the role of the C-terminal region in ClC-1 function, and provides information to develop new antimyotonic drugs.

2. The distinction between CLC-0/1/2 channels and CLC transporters seems undetectable by amino acid sequence; to understand why they are different functionally, study determined the structure of the human CLC-1 channel. subtle differences in glutamate gate conformation, internal pore diameter and Cl(-) affinity distinguish CLC channels and transporters.

3. FKBP8 Enhances Protein Stability of the CLC-1 Chloride Channel at the Plasma Membrane

4. The novel missense CLCN1 mutations is associated with a family affected with myotonia congenital.

5. Loss-of- function mutations in the CLCN1 gene located on 7q35, are the primary contributors to the pathogenesis of Thomsen myotonia

6. Regulation of CLC-1 chloride channel biosynthesis by FKBP8 and Hsp90beta as a molecular model for myotonia congenita has been described.

7. the spectrum of CLCN1 mutations in patients with Myotonia Congenita

8. 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 have been associated with paramyotonia congenita, 2 mutations in SCN4A have been associated with sodium channel myotonias.

9. report a novel ClC-1 mutation, T335N, that is associated with a mild phenotype

10. 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 and ClC-1 in the down-regulation of Gm during AP-firing activity in human skeletal muscle fibres

11. This study, novel mutations in CLCN1 were detected, and the spectrum of CLCN1 mutations known to be associated with MC was expanded.

12. our study confirms the presence of the myotonia causing CLCN1 mutations p.F167L and p.R105C in the Costa Rican population.

13. Three novel mutations including 2 missense and one splicing were found in myotonia congenita patients.

14. we characterized three other myotonic ClC-1 mutations.

15. 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.

16. Our data are consistent with the idea that the CUL4A/B-DDB1-CRBN complex catalyses the polyubiquitination and thus controls the degradation of CLC-1 channels.

17. investigated sequences of PRRT2 and CLCN1 in a proband diagnosed with paroxysmal kinesigenic dyskinesia and suspected myotonia congenita; the proband and his father harbored a PRRT2 c.649dupC mutation, and CLCN1 c.1723C>T and c.2492A>G mutations; first report showing the coexistence of PRRT2 and CLCN1 mutations

18. This electrophysiological and clinical observations suggest that heterozygous CLCN1 mutations can modify the clinical and electrophysiological expression of SCN4A mutation.

19. splicing mutations accounted for 23 percent of all pathogenic variants in the cohort of myotonia congenita patients; 4 were heterozygous mutations in 4 unrelated individuals: c.563G>T in exon 5; c.1169-5T>G in intron 10; c.1251+1G>A in intron 11 and c.1931-2A>G in intron 16

20. Six mutant forms of human CLC1 demonstrate modifications of channel gating behaviors and reduced chloride conductances that likely contribute to the physiologic changes of myotonia congenita.