NMD: RNA biology meets human genetic medicine

被引：180

作者：

Bhuvanagiri, Madhuri ^{[1
,2
,3
,4
]}

Schlitter, Anna M. ^{[1
,2
,4
]}

Hentze, Matthias W. ^{[1
,2
,3
]}

Kulozik, Andreas E. ^{[1
,2
,4
]}

机构：

[1] Heidelberg Univ, Mol Med Partnership Unit, D-69120 Heidelberg, Germany

[2] European Mol Biol Lab, D-69120 Heidelberg, Germany

[3] European Mol Biol Lab, D-69117 Heidelberg, Germany

[4] Heidelberg Univ, Dept Pediat Oncol Hematol & Immunol, D-69120 Heidelberg, Germany

来源：

BIOCHEMICAL JOURNAL | 2010年 / 430卷

关键词：

disease therapy; nonsense-mediated mRNA decay (NMD); premature termination codon (PTC); PTC-related disease; EXON-JUNCTION COMPLEX; NONSENSE-MEDIATED DECAY; IMPERFECTA TYPE-I; MESSENGER-RNA; TRANSLATION INITIATION; SURVEILLANCE COMPLEX; UPF PROTEINS; CRYSTAL-STRUCTURE; RELEASE FACTORS; PIN DOMAINS;

D O I：

10.1042/BJ20100699

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

070307 [化学生物学]; 071010 [生物化学与分子生物学];

摘要：

NMD (nonsense-mediated mRNA decay) belongs to the best-studied mRNA surveillance systems of the cell, limiting the synthesis of truncated and potentially harmful proteins on the one hand and playing an initially unexpected role in the regulation of global gene expression on the other hand. In the present review, we briefly discuss the factors involved in NMD, the different models proposed for the recognition of PTCs (premature termination codons), the diverse physiological roles of NMD, the involvement of this surveillance pathway in disease and the current strategies for medical treatment of PTC-related diseases.

引用

页码：365 / 377

页数：13

共 141 条

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Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology [J].