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Article

Inhibition of nonsense-mediated mRNA decay rescues the phenotype in Ullrich's disease.

Annals of neurology - 1 May 2004

Usuki Fusako, Yamashita Akio, Higuchi Itsuro, Ohnishi Tetsuo, Shiraishi Tadafumi, Osame Mitsuhiro, Ohno Shigeo

Abstract excerpt

Nonsense-mediated mRNA decay (NMD) is an mRNA surveillance system that eliminates aberrant mRNAs containing premature translation termination codons (PTCs). We evaluated the role of NMD in of Ullrich's disease. The patient has a frameshift mutation with a PTC in the collagen VI alpha2 gene causing the loss of collagen VI and functional defects in extracellular matrix (ECM). The pharmacological block of NMD caused...

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PMID: 15122717
DOI: 10.1002/ana.20107

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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.

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