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Article

Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions.

The American journal of pathology - 1 Aug 2014

Screen Mark, Jonson Per Harald, Raheem Olayinka, Palmio Johanna, Laaksonen Reijo, Lehtimäki Terho, Sirito Mario, Krahe Ralf, Hackman Peter, Udd Bjarne

Abstract excerpt

Myotonic dystrophy type 2 (DM2) is a multisystemic disorder caused by a (CCTG)n repeat expansion in intron 1 of CNBP. Transcription of the repeats causes a toxic RNA gain of function involving their accumulation in ribonuclear foci. This leads to sequestration of splicing factors and alters pre-m...

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Share to Endosomal Sorting Complexes Required for Transport
Share to Hydroxymethylglutaryl-CoA Reductase Inhibitors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Liver-Specific Organic Anion Transporter 1

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Share to Nedd4 Ubiquitin Protein Ligases

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Share to PTEN Phosphohydrolase

Source

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Identifiers

PMID: 24907641
DOI: 10.1016/j.ajpath.2014.04.013
PMCID: PMC4116696

Genes

NEDD4
PTEN
CNBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24907641-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions.PMID 24907641Read ↗

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