Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1.

@article{Hino2007MolecularMR,
  title={Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1.},
  author={Shin-ichiro Hino and Shinichi Kondo and Hiroshi Sekiya and Atsushi Saito and Soshi Kanemoto and Tomohiko Murakami and Kazuyasu Chihara and Yuri Aoki and Masayuki Nakamori and Masanori P. Takahashi and Kazunori Imaizumi},
  journal={Human molecular genetics},
  year={2007},
  volume={16 23},
  pages={2834-43}
}
Myotonic dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disorder associated with an expansion of CTG trinucleotide repeats in the 3'-untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. The RNA gain-of-function hypothesis proposes that mutant DMPK mRNA alters the function and localization of alternative splicing regulators, which are critical for normal RNA processing. Previously, we found alternative splicing variants of sarcoplasmic/endoplasmic reticulum Ca… CONTINUE READING

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The RNA gain - of - function hypothesis proposes that mutant DMPK mRNA alters the function and localization of alternative splicing regulators , which are critical for normal RNA processing .
Myotonic dystrophy type 1 ( DM1 ) is an autosomal dominant neuromuscular disorder associated with an expansion of CTG trinucleotide repeats in the 3'-untranslated region of the myotonic dystrophy protein kinase ( DMPK ) gene .
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