PMID: 8608167Mar 1, 1996Paper

Effect of artificial (CTG) repeat expansion on the expression of myotonin protein kinase (MtPK) in COS-1 cells

Biochimica Et Biophysica Acta
N SasagawaK Suzuki

Abstract

A major challenge in the study of a new genetic entity called triplet-repeat disease is to identify the role of triplet repeats in the pathogenesis of the disease. We have developed a strategy to demonstrate the effect in the 3'-untranslated end of the (CTG) repeats in myotonic dystrophy gene (MtPK) and found that repeat expansion (CTG46) causes a slight decrease in the translation rate of MtPK cDNA which correlates with the finding in patients with myotonic dystrophy of a low amount of MtPK protein in muscle. These results provide an important clue for characterizing the genetic abnormality in other triplet-repeat diseases.

References

Jul 1, 1993·Nature Genetics·L A SabouriR G Korneluk
May 1, 1993·Nature Genetics·G ImbertJ L Mandel

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Citations

Mar 17, 1999·Neuroscience Letters·N TakahashiS Ishiura
Jun 27, 2012·Journal of Biomolecular Structure & Dynamics·Jevgenia TamjarLucy Malinina
May 13, 2009·Nucleic Acids Research·Agnieszka KiliszekWojciech Rypniewski
Nov 7, 2000·Progress in Histochemistry and Cytochemistry·H UedaT Kobayashi

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