Muscleblind-Like 1 Knockout Mice Reveal Novel Splicing Defects in the Myotonic Dystrophy Brain

Myotonic dystrophy type 1 (DM1) is a multi-systemic disorder caused by a CTG trinucleotide repeat expansion (CTG(exp)) in the DMPK gene. In skeletal muscle, nuclear sequestration of the alternative splicing factor muscleblind-like 1 (MBNL1) explains the majority of the alternative splicing defects o...

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Hlavní autoři: Suenaga, Koichi, Lee, Kuang-Yung, Nakamori, Masayuki, Tatsumi, Yoshiki, Takahashi, Masanori P., Fujimura, Harutoshi, Jinnai, Kenji, Yoshikawa, Hiroo, Du, Hongqing, Ares, Manuel, Swanson, Maurice S., Kimura, Takashi
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2012
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3302840/
https://ncbi.nlm.nih.gov/pubmed/22427994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0033218
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