M. Swanson

Publications166
h-index62
Citations15,897
Highly Influential Citations898
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Non-ATG–initiated translation directed by microsatellite expansions
Trinucleotide expansions cause disease by both protein- and RNA-mediated mechanisms. Unexpectedly, we discovered that CAG expansion constructs express homopolymeric polyglutamine, polyalanine, and… Expand
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Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy
Myotonic dystrophy (DM1) is an autosomal dominant neuromuscular disorder associated with a (CTG)n expansion in the 3′‐untranslated region of the DM1 protein kinase (DMPK) gene. To explain disease… Expand
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A Muscleblind Knockout Model for Myotonic Dystrophy
The neuromuscular disease myotonic dystrophy (DM) is caused by microsatellite repeat expansions at two different genomic loci. Mutant DM transcripts are retained in the nucleus together with the… Expand
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Association of Legionella pneumophila with the macrophage endoplasmic reticulum.
Legionella pneumophila replicates within a membrane-bounded compartment that is studded with ribosomes. In this study we investigated whether these ribosomes originate from the cytoplasmic pool or… Expand
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Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy.
In myotonic dystrophy (DM), expression of RNA containing expanded CUG or CCUG repeats leads to misregulated alternative splicing of pre-mRNA. The repeat-bearing transcripts accumulate in nuclear… Expand
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Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons.
Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG repeat in the DMPK gene. In skeletal muscles, DM1 may involve a novel, RNA-dominant disease mechanism in which transcripts from the… Expand
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Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy
  • H. Du, M. Cline, +8 authors M. Ares
  • Biology, Medicine
  • Nature Structural &Molecular Biology
  • 1 February 2010
The common form of myotonic dystrophy (DM1) is associated with the expression of expanded CTG DNA repeats as RNA (CUGexp RNA). To test whether CUGexp RNA creates a global splicing defect, we compared… Expand
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Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy.
Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease that is associated with a (CTG)n repeat expansion in the 3'-untranslated region of the myotonin protein kinase (Mt-PK) gene.… Expand
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Muscleblind proteins regulate alternative splicing
Although the muscleblind (MBNL) protein family has been implicated in myotonic dystrophy (DM), a specific function for these proteins has not been reported. A key feature of the RNA‐mediated… Expand
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Dual requirement for yeast hnRNP Nab2p in mRNA poly(A) tail length control and nuclear export
Recent studies of mRNA export factors have provided additional evidence for a mechanistic link between mRNA 3′‐end formation and nuclear export. Here, we identify Nab2p as a nuclear poly(A)‐binding… Expand
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