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Items: 1 to 20 of 91

1.

Rescue of nonsense mutations by amlexanox in human cells.

Gonzalez-Hilarion S, Beghyn T, Jia J, Debreuck N, Berte G, Mamchaoui K, Mouly V, Gruenert DC, Déprez B, Lejeune F.

Orphanet J Rare Dis. 2012 Aug 31;7:58. doi: 10.1186/1750-1172-7-58.

2.

Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin.

Linde L, Boelz S, Nissim-Rafinia M, Oren YS, Wilschanski M, Yaacov Y, Virgilis D, Neu-Yilik G, Kulozik AE, Kerem E, Kerem B.

J Clin Invest. 2007 Mar;117(3):683-92. Epub 2007 Feb 8.

3.

Tobramycin is a suppressor of premature termination codons.

Altamura N, Castaldo R, Finotti A, Breveglieri G, Salvatori F, Zuccato C, Gambari R, Panin GC, Borgatti M.

J Cyst Fibros. 2013 Dec;12(6):806-11. doi: 10.1016/j.jcf.2013.02.007. Epub 2013 Mar 27.

4.

Nonsense-mediated mRNA decay and cystic fibrosis.

Linde L, Kerem B.

Methods Mol Biol. 2011;741:137-54. doi: 10.1007/978-1-61779-117-8_10.

PMID:
21594783
5.

A system for coordinated analysis of translational readthrough and nonsense-mediated mRNA decay.

Baker SL, Hogg JR.

PLoS One. 2017 Mar 21;12(3):e0173980. doi: 10.1371/journal.pone.0173980. eCollection 2017.

6.

Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases.

Benhabiles H, Gonzalez-Hilarion S, Amand S, Bailly C, Prévotat A, Reix P, Hubert D, Adriaenssens E, Rebuffat S, Tulasne D, Lejeune F.

PLoS One. 2017 Nov 13;12(11):e0187930. doi: 10.1371/journal.pone.0187930. eCollection 2017.

7.

Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.

Inácio A, Silva AL, Pinto J, Ji X, Morgado A, Almeida F, Faustino P, Lavinha J, Liebhaber SA, Romão L.

J Biol Chem. 2004 Jul 30;279(31):32170-80. Epub 2004 May 25.

8.

Identification and characterization of small molecules that inhibit nonsense-mediated RNA decay and suppress nonsense p53 mutations.

Martin L, Grigoryan A, Wang D, Wang J, Breda L, Rivella S, Cardozo T, Gardner LB.

Cancer Res. 2014 Jun 1;74(11):3104-13. doi: 10.1158/0008-5472.CAN-13-2235. Epub 2014 Mar 24.

9.

Unspliced precursors of NMD-sensitive β-globin transcripts exhibit decreased steady-state levels in erythroid cells.

Morgado A, Almeida F, Teixeira A, Silva AL, Romão L.

PLoS One. 2012;7(6):e38505. doi: 10.1371/journal.pone.0038505. Epub 2012 Jun 4.

10.

Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis.

Sermet-Gaudelus I, Boeck KD, Casimir GJ, Vermeulen F, Leal T, Mogenet A, Roussel D, Fritsch J, Hanssens L, Hirawat S, Miller NL, Constantine S, Reha A, Ajayi T, Elfring GL, Miller LL.

Am J Respir Crit Care Med. 2010 Nov 15;182(10):1262-72. doi: 10.1164/rccm.201001-0137OC. Epub 2010 Jul 9.

PMID:
20622033
11.

Therapeutics based on stop codon readthrough.

Keeling KM, Xue X, Gunn G, Bedwell DM.

Annu Rev Genomics Hum Genet. 2014;15:371-94. doi: 10.1146/annurev-genom-091212-153527. Epub 2014 Apr 18. Review.

12.

Nonsense suppression therapies in ocular genetic diseases.

Wang X, Gregory-Evans CY.

Cell Mol Life Sci. 2015 May;72(10):1931-8. doi: 10.1007/s00018-015-1843-0. Epub 2015 Feb 5. Review.

PMID:
25651836
13.

Enhancement of premature stop codon readthrough in the CFTR gene by Ataluren (PTC124) derivatives.

Pibiri I, Lentini L, Melfi R, Gallucci G, Pace A, Spinello A, Barone G, Di Leonardo A.

Eur J Med Chem. 2015 Aug 28;101:236-44. doi: 10.1016/j.ejmech.2015.06.038. Epub 2015 Jun 21.

PMID:
26142488
14.

Nonsense-mediated mRNA decay was demonstrated in two hypofibrinogenemias caused by heterozygous nonsense mutations of FGG, Shizuoka III and Kanazawa II.

Soya K, Takezawa Y, Okumura N, Terasawa F.

Thromb Res. 2013 Oct;132(4):465-70. doi: 10.1016/j.thromres.2013.08.010. Epub 2013 Aug 17.

PMID:
24011387
15.

Nonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay.

Roman-Sanchez R, Wensel TG, Wilson JH.

Exp Eye Res. 2016 Apr;145:444-449. doi: 10.1016/j.exer.2015.09.013. Epub 2015 Sep 26.

16.

Nonsense mediated decay resistant mutations are a source of expressed mutant proteins in colon cancer cell lines with microsatellite instability.

Williams DS, Bird MJ, Jorissen RN, Yu YL, Walker F, Zhang HH, Nice EC, Burgess AW.

PLoS One. 2010 Dec 31;5(12):e16012. doi: 10.1371/journal.pone.0016012. Erratum in: PLoS One. 2011;6(1). doi: 10.1371/annotation/53805ecf-7d10-4d99-9cec-f27f5e0d4166. Walker, Franscesa [corrected to Walker, Francesca].

17.

Incomplete nonsense-mediated mRNA decay in Giardia lamblia.

Chen YH, Su LH, Sun CH.

Int J Parasitol. 2008 Sep;38(11):1305-17. doi: 10.1016/j.ijpara.2008.02.006. Epub 2008 Mar 21.

PMID:
18430426
18.

Nonsense-mediated mRNA decay and ubiquitin-proteasome system regulate cardiac myosin-binding protein C mutant levels in cardiomyopathic mice.

Vignier N, Schlossarek S, Fraysse B, Mearini G, Krämer E, Pointu H, Mougenot N, Guiard J, Reimer R, Hohenberg H, Schwartz K, Vernet M, Eschenhagen T, Carrier L.

Circ Res. 2009 Jul 31;105(3):239-48. doi: 10.1161/CIRCRESAHA.109.201251. Epub 2009 Jul 9.

19.

Toward a rationale for the PTC124 (Ataluren) promoted readthrough of premature stop codons: a computational approach and GFP-reporter cell-based assay.

Lentini L, Melfi R, Di Leonardo A, Spinello A, Barone G, Pace A, Palumbo Piccionello A, Pibiri I.

Mol Pharm. 2014 Mar 3;11(3):653-64. doi: 10.1021/mp400230s. Epub 2014 Feb 7.

20.

Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon.

Neu-Yilik G, Amthor B, Gehring NH, Bahri S, Paidassi H, Hentze MW, Kulozik AE.

RNA. 2011 May;17(5):843-54. doi: 10.1261/rna.2401811. Epub 2011 Mar 9.

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