title: NMD: RNA biology meets human genetic medicine.
abstract: 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.
authors.affiliation: University of Heidelberg and European Molecular Biology Laboratory, Germany.
authors.forename: Madhuri
authors.initials: M
authors.lastname: Bhuvanagiri
authors.forename: Anna M
authors.initials: AM
authors.lastname: Schlitter
authors.forename: Matthias W
authors.initials: MW
authors.lastname: Hentze
authors.forename: Andreas E
authors.initials: AE
authors.lastname: Kulozik
mesh_terms: D000818:Animals; D018389:Codon, Nonsense / Q000235:genetics*; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005826:Genetics, Medical / Q000379:methods* / Q000639:trends; D006801:Humans; D008957:Models, Genetic; D012313:RNA / Q000235:genetics* / Q000378:metabolism; D020871:RNA Stability
chemical_list: D018389:Codon, Nonsense; D012313:RNA