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Article

Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts.

Proceedings of the National Academy of Sciences of the United States of America - 8 Jul 1997

Davis B M, McCurrach M E, Taneja K L, Singer R H, Housman D E

Abstract excerpt

Expansion of a CTG trinucleotide repeat in the 3' untranslated region (UTR) of DMPK, the gene encoding myotonic dystrophy protein kinase, induces the dominantly inherited neuromuscular disorder myotonic dystrophy (DM). Transcripts containing the expanded trinucleotide are abundant in differentiated cultured myoblasts, and they are spliced and polyadenylylated normally. However, mutant transcripts never reach the...

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Source

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Identifiers

PMID: 9207101
DOI: 10.1073/pnas.94.14.7388
PMCID: PMC23831

Genes

DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts.PMID 9207101Read ↗

Trinucleotide-repeat expanded and normal DMPK transcripts contain unusually long poly(A) tails despite differential nuclear residence.Semantic proximity Read ↗

Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genesSemantic proximity Read ↗

Tackling the pathogenesis of RNA nuclear retention in myotonic dystrophy.Semantic proximity Read ↗

(CTG)n repeat-mediated dysregulation of MBNL1 and MBNL2 expression during myogenesis in DM1 occurs already at the myoblast stageSemantic proximity Read ↗

Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding proteinSemantic proximity Read ↗

Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic DystrophySemantic proximity Read ↗

Mutant DMPK 3'-UTR transcripts disrupt C2C12 myogenic differentiation by compromising MyoD.Semantic proximity Read ↗

Gain of RNA function in pathological cases: Focus on myotonic dystrophy.Semantic proximity Read ↗

The myotonic dystrophy expanded CUG repeat tract is necessary but not sufficient to disrupt C2C12 myoblast differentiation.Semantic proximity Read ↗

Cytoplasmic and nuclear retained DMPK mRNAs are targets for RNA interference in myotonic dystrophy cells.Semantic proximity Read ↗

Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains.Semantic proximity Read ↗

Regulation of Toxic RNA Foci and Mutant <i>DMPK</i> Transcripts: Role of MBNL Proteins and RNA Decay PathwaysSemantic proximity Read ↗

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