F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle‐specific chloride channel CLC‐1
Abstract In northern Finland myotonia congenita is caused by three main mutations in the ClC‐1 chloride channel. We studied the molecular basis of these mutations (1238T>G/F413C, 1592C>T/A531V, and 2680C>T/R894X). The mutated cDNAs were expressed either in L6 myotubes or in isolated rat myo...
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crwiley:10.1002/mus.20922 2024-09-09T19:59:17+00:00 F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle‐specific chloride channel CLC‐1 Papponen, Hinni Nissinen, Marja Kaisto, Tuula Myllylä, Vilho V. Myllylä, Raili Metsikkö, Kalervo 2007 http://dx.doi.org/10.1002/mus.20922 https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmus.20922 https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.20922 en eng Wiley http://onlinelibrary.wiley.com/termsAndConditions#vor Muscle & Nerve volume 37, issue 3, page 317-325 ISSN 0148-639X 1097-4598 journal-article 2007 crwiley https://doi.org/10.1002/mus.20922 2024-06-18T04:11:52Z Abstract In northern Finland myotonia congenita is caused by three main mutations in the ClC‐1 chloride channel. We studied the molecular basis of these mutations (1238T>G/F413C, 1592C>T/A531V, and 2680C>T/R894X). The mutated cDNAs were expressed either in L6 myotubes or in isolated rat myofibers using recombinant Semliki Forest virus. Experiments in L6 cells indicated that A531V and R894X proteins suffered from stability problems in these cells. Analysis in myofibers indicated that the A531V protein was totally retained in the endoplasmic reticulum (ER), whereas the export of the F413C protein was severely reduced. The C‐terminal nonsense mutant (R894X), however, was normally transported to the Golgi elements in the myofibers. Defective export or reduced stability of the mutated proteins may thus be reasons for the myotonic symptoms. Muscle Nerve, 2007 Article in Journal/Newspaper Northern Finland Wiley Online Library Muscle & Nerve 37 3 317 325 |
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English |
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Abstract In northern Finland myotonia congenita is caused by three main mutations in the ClC‐1 chloride channel. We studied the molecular basis of these mutations (1238T>G/F413C, 1592C>T/A531V, and 2680C>T/R894X). The mutated cDNAs were expressed either in L6 myotubes or in isolated rat myofibers using recombinant Semliki Forest virus. Experiments in L6 cells indicated that A531V and R894X proteins suffered from stability problems in these cells. Analysis in myofibers indicated that the A531V protein was totally retained in the endoplasmic reticulum (ER), whereas the export of the F413C protein was severely reduced. The C‐terminal nonsense mutant (R894X), however, was normally transported to the Golgi elements in the myofibers. Defective export or reduced stability of the mutated proteins may thus be reasons for the myotonic symptoms. Muscle Nerve, 2007 |
format |
Article in Journal/Newspaper |
author |
Papponen, Hinni Nissinen, Marja Kaisto, Tuula Myllylä, Vilho V. Myllylä, Raili Metsikkö, Kalervo |
spellingShingle |
Papponen, Hinni Nissinen, Marja Kaisto, Tuula Myllylä, Vilho V. Myllylä, Raili Metsikkö, Kalervo F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle‐specific chloride channel CLC‐1 |
author_facet |
Papponen, Hinni Nissinen, Marja Kaisto, Tuula Myllylä, Vilho V. Myllylä, Raili Metsikkö, Kalervo |
author_sort |
Papponen, Hinni |
title |
F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle‐specific chloride channel CLC‐1 |
title_short |
F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle‐specific chloride channel CLC‐1 |
title_full |
F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle‐specific chloride channel CLC‐1 |
title_fullStr |
F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle‐specific chloride channel CLC‐1 |
title_full_unstemmed |
F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle‐specific chloride channel CLC‐1 |
title_sort |
f413c and a531v but not r894x myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle‐specific chloride channel clc‐1 |
publisher |
Wiley |
publishDate |
2007 |
url |
http://dx.doi.org/10.1002/mus.20922 https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmus.20922 https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.20922 |
genre |
Northern Finland |
genre_facet |
Northern Finland |
op_source |
Muscle & Nerve volume 37, issue 3, page 317-325 ISSN 0148-639X 1097-4598 |
op_rights |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
op_doi |
https://doi.org/10.1002/mus.20922 |
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Muscle & Nerve |
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37 |
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3 |
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317 |
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325 |
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1809930419969196032 |