A Muscleblind Knockout Model for Myotonic Dystrophy

By R. Kanadia, K. Johnstone, A. Mankodi, C. Lungu, C. Thornton, D. Esson, A. Timmers, W. Hauswirth, M. Swanson. Science, 2003

756 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/c7de36f52ceb4a1d667bb5302ed13310432de62e

How researchers see this paper

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In Cellular and Molecular Neuroscience

1. H. Zoghbi

In Molecular Biology

1. H. Zoghbi
2. Benjamin J. Blencowe

Citations in the corpus

• Diseases of Unstable Repeat Expansion: Mechanisms and Common Principles (2005, background): “, and an Mbnl knockout mouse model develops DM-like eye and muscle phenotypes and shows defective regulation of alternative splicin”
• Alternative splicing: new insights from global analyses. (2006, background): “In analogy to the latter situation, the expansion of CUG trinucleotide repeats in the 3′UTR of the Dmpk gene, which is associated with myotonic dystrophy, is thought to result in the sequestration of the tissue-specific Muscleblind (MBNL) splicing factors, leading to aberrant AS patterns of disease-”
• Expandable DNA repeats and human disease (2007, background): “Most importantly, Mbnl1 -knockout mice show splicing deregulation and phenotypic manifestations characteristic of myotonic dystrophy, such as skeletal muscle myotonia and cataract”