Inhibition of nonsense-mediated mRNA decay by antisense morpholino oligonucleotides restores functional expression of hERG nonsense and frameshift mutations in long-QT syndrome
about
Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspectsStop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.Position of premature termination codons determines susceptibility of hERG mutations to nonsense-mediated mRNA decay in long QT syndromeSarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathySuppression of nonsense mutations as a therapeutic approach to treat genetic diseases.Inhibition of SMG-8, a subunit of SMG-1 kinase, ameliorates nonsense-mediated mRNA decay-exacerbated mutant phenotypes without cytotoxicity.LQT2 nonsense mutations generate trafficking defective NH2-terminally truncated channels by the reinitiation of translation.Therapeutics based on stop codon readthrough.Identification and characterization of a novel genetic mutation with prolonged QT syndrome in an unexplained postoperative death.Cardiac potassium channel subtypes: new roles in repolarization and arrhythmia.hERG quality control and the long QT syndrome.Early LQT2 nonsense mutation generates N-terminally truncated hERG channels with altered gating properties by the reinitiation of translation.In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy.Nonsense-Mediated mRNA Decay of hERG Mutations in Long QT Syndrome.The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy.
P2860
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P2860
Inhibition of nonsense-mediated mRNA decay by antisense morpholino oligonucleotides restores functional expression of hERG nonsense and frameshift mutations in long-QT syndrome
description
2010 nî lūn-bûn
@nan
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Inhibition of nonsense-mediate ...... mutations in long-QT syndrome
@ast
Inhibition of nonsense-mediate ...... mutations in long-QT syndrome
@en
Inhibition of nonsense-mediate ...... mutations in long-QT syndrome
@nl
type
label
Inhibition of nonsense-mediate ...... mutations in long-QT syndrome
@ast
Inhibition of nonsense-mediate ...... mutations in long-QT syndrome
@en
Inhibition of nonsense-mediate ...... mutations in long-QT syndrome
@nl
prefLabel
Inhibition of nonsense-mediate ...... mutations in long-QT syndrome
@ast
Inhibition of nonsense-mediate ...... mutations in long-QT syndrome
@en
Inhibition of nonsense-mediate ...... mutations in long-QT syndrome
@nl
P2093
P2860
P1476
Inhibition of nonsense-mediate ...... mutations in long-QT syndrome
@en
P2093
Matthew R Stump
Qiuming Gong
Zhengfeng Zhou
P2860
P304
P356
10.1016/J.YJMCC.2010.10.022
P577
2010-10-28T00:00:00Z