These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. The synthetic aminoglycoside ELX-02 induces readthrough of G550X-CFTR producing superfunctional protein that can be further enhanced by CFTR modulators. Chen J; Thrasher K; Fu L; Wang W; Aghamohammadzadeh S; Wen H; Tang L; Keeling KM; Falk Libby E; Bedwell DM; Rowe SM Am J Physiol Lung Cell Mol Physiol; 2023 Jun; 324(6):L756-L770. PubMed ID: 37014818 [TBL] [Abstract][Full Text] [Related]
3. Therapeutic benefit observed with the CFTR potentiator, ivacaftor, in a CF patient homozygous for the W1282X CFTR nonsense mutation. Mutyam V; Libby EF; Peng N; Hadjiliadis D; Bonk M; Solomon GM; Rowe SM J Cyst Fibros; 2017 Jan; 16(1):24-29. PubMed ID: 27707539 [TBL] [Abstract][Full Text] [Related]
4. Novel Correctors and Potentiators Enhance Translational Readthrough in CFTR Nonsense Mutations. Mutyam V; Sharma J; Li Y; Peng N; Chen J; Tang LP; Falk Libby E; Singh AK; Conrath K; Rowe SM Am J Respir Cell Mol Biol; 2021 May; 64(5):604-616. PubMed ID: 33616476 [TBL] [Abstract][Full Text] [Related]
5. Discovery of Clinically Approved Agents That Promote Suppression of Cystic Fibrosis Transmembrane Conductance Regulator Nonsense Mutations. Mutyam V; Du M; Xue X; Keeling KM; White EL; Bostwick JR; Rasmussen L; Liu B; Mazur M; Hong JS; Falk Libby E; Liang F; Shang H; Mense M; Suto MJ; Bedwell DM; Rowe SM Am J Respir Crit Care Med; 2016 Nov; 194(9):1092-1103. PubMed ID: 27104944 [TBL] [Abstract][Full Text] [Related]
6. Synthetic aminoglycosides efficiently suppress cystic fibrosis transmembrane conductance regulator nonsense mutations and are enhanced by ivacaftor. Xue X; Mutyam V; Tang L; Biswas S; Du M; Jackson LA; Dai Y; Belakhov V; Shalev M; Chen F; Schacht J; J Bridges R; Baasov T; Hong J; Bedwell DM; Rowe SM Am J Respir Cell Mol Biol; 2014 Apr; 50(4):805-16. PubMed ID: 24251786 [TBL] [Abstract][Full Text] [Related]
7. Identification of Compounds That Promote Readthrough of Premature Termination Codons in the CFTR. Smith E; Dukovski D; Shumate J; Scampavia L; Miller JP; Spicer TP SLAS Discov; 2021 Feb; 26(2):205-215. PubMed ID: 33016182 [TBL] [Abstract][Full Text] [Related]
8. Suppression of CFTR premature termination codons and rescue of CFTR protein and function by the synthetic aminoglycoside NB54. Rowe SM; Sloane P; Tang LP; Backer K; Mazur M; Buckley-Lanier J; Nudelman I; Belakhov V; Bebok Z; Schwiebert E; Baasov T; Bedwell DM J Mol Med (Berl); 2011 Nov; 89(11):1149-61. PubMed ID: 21779978 [TBL] [Abstract][Full Text] [Related]
9. Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapies. Hinzpeter A; Aissat A; de Becdelièvre A; Bieth E; Sondo E; Martin N; Costes B; Costa C; Goossens M; Galietta LJ; Girodon E; Fanen P Hum Mutat; 2013 Feb; 34(2):287-91. PubMed ID: 23065710 [TBL] [Abstract][Full Text] [Related]
10. A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion. Sharma J; Du M; Wong E; Mutyam V; Li Y; Chen J; Wangen J; Thrasher K; Fu L; Peng N; Tang L; Liu K; Mathew B; Bostwick RJ; Augelli-Szafran CE; Bihler H; Liang F; Mahiou J; Saltz J; Rab A; Hong J; Sorscher EJ; Mendenhall EM; Coppola CJ; Keeling KM; Green R; Mense M; Suto MJ; Rowe SM; Bedwell DM Nat Commun; 2021 Jul; 12(1):4358. PubMed ID: 34272367 [TBL] [Abstract][Full Text] [Related]
11. Downstream Alternate Start Site Allows N-Terminal Nonsense Variants to Escape NMD and Results in Functional Recovery by Readthrough and Modulator Combination. Bowling A; Eastman A; Merlo C; Lin G; West N; Patel S; Cutting G; Sharma N J Pers Med; 2022 Sep; 12(9):. PubMed ID: 36143233 [TBL] [Abstract][Full Text] [Related]
12. Positional effects of premature termination codons on the biochemical and biophysical properties of CFTR. Yeh JT; Hwang TC J Physiol; 2020 Feb; 598(3):517-541. PubMed ID: 31585024 [TBL] [Abstract][Full Text] [Related]
13. 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; 11(3):653-64. PubMed ID: 24483936 [TBL] [Abstract][Full Text] [Related]
14. Small-molecule eRF3a degraders rescue CFTR nonsense mutations by promoting premature termination codon readthrough. Lee RE; Lewis CA; He L; Bulik-Sullivan EC; Gallant SC; Mascenik TM; Dang H; Cholon DM; Gentzsch M; Morton LC; Minges JT; Theile JW; Castle NA; Knowles MR; Kimple AJ; Randell SH J Clin Invest; 2022 Sep; 132(18):. PubMed ID: 35900863 [TBL] [Abstract][Full Text] [Related]
15. Ataluren/ivacaftor combination therapy: Two N-of-1 trials in cystic fibrosis patients with nonsense mutations. Peabody Lever JE; Mutyam V; Hathorne HY; Peng N; Sharma J; Edwards LJ; Rowe SM Pediatr Pulmonol; 2020 Jul; 55(7):1838-1842. PubMed ID: 32281737 [TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 17290305 [TBL] [Abstract][Full Text] [Related]