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Article

Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing.

Genomics - 1 Jul 1995

Krahe R, Ashizawa T, Abbruzzese C, Roeder E, Carango P, Giacanelli M, Funanage V L, Siciliano M J

Abstract excerpt

The myotonic dystrophy (DM) mutation has been identified as an unstable, expanded (CTG)n repeat in the 3' untranslated region of a gene designated DM protein kinase (DMPK). Both decreased and increased levels of mutant DMPK mRNA as well as decreased levels of protein have been variously reported and invoked to explain disparate molecular bases of this dominantly inherited disease. Most recently, increased...

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Source

Identifiers

PMID: 7590731
DOI: 10.1006/geno.1995.1099

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing.PMID 7590731Read ↗

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

Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation.Semantic proximity Read ↗

Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat.Semantic proximity Read ↗

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

Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.Semantic proximity Read ↗

Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy.Semantic proximity Read ↗

Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHPSemantic proximity Read ↗

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

Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy.Semantic proximity Read ↗

[From gene to disease; altered RNA processing as a cause of myotonic dystrophy type 1].Semantic proximity Read ↗

Myotonic dystrophy: molecular and cellular consequences of expanded DNA repeats are elusive.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 ↗

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