[1] Nicholson P, Yepiskoposyan H, Metze S, Zamudio Orozco R, Kleinschmidt N, Mühlemann O. Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors. Cell Mol Life Sci, 2010, 67(5): 677-700.[2] Losson R, Lacroute F. Interference of nonsense mutations with eukaryotic messenger RNA stability. Proc Natl Acad Sci USA, 1979, 76(10): 5134-5137.[3] Maquat LE, Kinniburgh AJ, Rachimilewiz EA, Ross J. Unstable beta-globin mRNA in mRNA-deficient beta (0) thalassemia. Cell, 1981, 27(3 Pt 2): 543-553.[4] Bhuvanagiri M, Schlitter AM, Hentze MW, Kulozik AE. NMD: RNA biology meets human genetic medicine. Biochem J, 2010, 430(3): 365-377.[5] Culbertson MR. RNA surveillance. Unforeseen conse-quences for gene expression, inherited genetic disorders and cancer. Trends Genet, 1999, 15(2): 74-80.[6] Franks TM, Singh G, Lykke-Andersen J. Upf1 ATPase-dependent mRNP disassembly is required for completion of nonsense-mediated mRNA decay. Cell, 2010, 143(6): 938-950.[7] Durand S, Lykke-Andersen J. SnapShot: nonsense-mediated mRNA decay. Cell, 2011, 145(2): 324.[8] Chang YF, Imam JS, Wilkinson MF. The nonsense-mediated decay RNA surveillance pathway. Annu Rev Bio-chem, 2007, 76(1): 51-74.[9] Hwang J, Maquat LE. Nonsense-mediated mRNA decay (NMD) in animal embryogenesis: to die or not to die, that is the question. Curr Opin Genet Dev, 2011, 21(4): 422-430.[10] Maquat LE, Tarn WY, Isken O. The pioneer round of translation: features and functions. Cell, 2010, 142(3): 368-374.[11] Kadlec J, Izaurralde E, Cusack S. The structural basis for the interaction between nonsense-mediated mRNA decay factors UPF2 and UPF3. Nat Struct Mol Biol, 2004, 11(4): 330-337.[12] Gehring NH, Lamprinaki S, Hentze MW, Kulozik AE, Misteli T. The hierarchy of exon-junction complex assembly by the spliceosome explains key features of mammalian nonsense-mediated mRNA decay. PLoS Biol, 2009, 7(5): e1000120.[13] Wang J, Gudikote JP, Olivas OR, Wilkinson MF. Bound-ary-independent polar nonsense-mediated decay. EMBO Rep, 2002, 3(3): 274-279.[14] Cusack BP, Arndt PF, Duret L, Roest Crollius H, Zhang J Z. Preventing dangerous nonsense: selection for robust-ness to transcriptional error in human genes. PLoS Genet, 2011, 7(10): e1002276.[15] Rebbapragada I, Lykke-Andersen J. Execution of non-sense-mediated mRNA decay: what defines a substrate? Curr Opin Cell Biol, 2009, 21(3): 394-402.[16] Hogg JR, Goff SP. Upf1 senses 3’UTR length to potentiate mRNA decay. Cell, 2010, 143(3): 379-389.[17] Bühler M, Steiner S, Mohn F, Paillusson A, Mühlemann O. EJC-independent degradation of nonsense immunoglobu-lin-mu mRNA depends on 3' UTR length. Nat Struct Mol Biol, 2006, 13(5): 462-464.[18] Wen J, Brogna S. Splicing-dependent NMD does not require the EJC in Schizosaccharomyces pombe. EMBO J, 2010, 29(9): 1537-1551.[19] Forget BG, Benz EJ Jr, Skoultchi A, Baglioni C, Housman D. Absence of messenger RNA for beta globin chain in β0 thalassaemia. Nature, 1974, 247(440): 379-381.[20] Baserga SJ, Benz EJ Jr. Nonsense mutations in the human beta-globin gene affect mRNA metabolism. Pro Natl Acad Sci USA, 1988, 85(7): 2056-2060.[21] Hall GW, Thein S. Nonesense codon mutations in the terminal exon of the β-mRNA accumulation: a mechanism for the phenotype of dominant β-thalassemia. Blood, 1994, 83(8): 2031-2037.[22] Gerards M, van den Bosch B, Calis C, Schoonderwoerd K, van Engelen K, Tijssen M, de Coo R, van der Kooi A, Smeets H. Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. Mito-chondrion, 2010, 10(5): 510-515.[23] Isidor B, Lindenbaum P, Pichon |