Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat.

By A. Mankodi, Eric L. Logigian, L. Callahan, C. McClain, R. J. White, D. Henderson, M. Krym, C. Thornton. Science, 2000

734 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/11032e518935dc501e1530d7e2a750a6277511fd

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In Cellular and Molecular Neuroscience

H. Zoghbi

In Molecular Biology

Citations in the corpus

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy (2001, background): “Myotonia has recently been reproduced in transgenic mice expressing a human actin gene containing 250 CTG repeats, demonstrating that the expression of CUG-repeat RNA has a deleterious gain-of-function independent of DMPK (ref”
Pre-mRNA splicing and human disease. (2003, background): “Recent results from individuals with DM1 and HSALR mice demonstrate that aberrantly regulated splicing of ClC-1 pre-mRNAs introduces PTCs resulting in NMD of the ClC-1 mRNA and ultimately loss of ClC-1 function (Charlet et al. 2002b; Mankodi et al. 2002).”
Diseases of Unstable Repeat Expansion: Mechanisms and Common Principles (2005, background): “Second, HSA LR mice that carry 250 CUG repeats in the 3′ UTR of the human skeletal actin gene reproduce the characteristic myotonia and abnormal muscle histology of DM1 (Ref”
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. (2003, background): “The presence of elevated FMR1 mRNA in all patients suggests that this syndrome may represent a gain-of-function effect from the elevated message levels (Hagerman et al. 2001; Greco et al. 2002) as proposed previously for myotonic dystrophy (Mankodi et al. 2000).”
Expandable DNA repeats and human disease (2007, background): “Most strikingly, a transgenic mouse expressing (CUG) 250 repeats within the 3′-UTR of a heterologous gene (skeletal actin) showed major symptoms of myotonic dystroph”