Temperature dependence of human muscle ClC‐1 chloride channel
نویسندگان
چکیده
منابع مشابه
ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro
Myotonic dystrophy type 2 (DM2) is caused by CCTG-repeat expansions. Occurrence of splicing and mutations in the muscle chloride channel gene CLCN1 have been reported to contribute to the phenotype. To examine the effect of CLCN1 in DM2 in Germany, we determined the frequency of a representative ClC1 mutation, R894X, and its effect on DM2 clinical features. Then, we examined CLCN1 mRNA splice v...
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Expression of chloride channel 1 (CLCN1/ClC-1) in skeletal muscle is driven by alternative splicing, a process regulated in part by RNA-binding protein families MBNL and CELF. Aberrant splicing of CLCN1 produces many mRNAs, which were translated into inactive proteins, resulting in myotonia in myotonic dystrophy (DM), a genetic disorder caused by the expansion of a CTG or CCTG repeat. This incr...
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ژورنال
عنوان ژورنال: The Journal of Physiology
سال: 2001
ISSN: 0022-3751,1469-7793
DOI: 10.1111/j.1469-7793.2001.t01-1-00083.x