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Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences.

Xue X, Mutyam V, Thakerar A, Mobley J, Bridges RJ, Rowe SM, Keeling KM, Bedwell DM.

Hum Mol Genet. 2017 Aug 15;26(16):3116-3129. doi: 10.1093/hmg/ddx196.


Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression.

Roy B, Friesen WJ, Tomizawa Y, Leszyk JD, Zhuo J, Johnson B, Dakka J, Trotta CR, Xue X, Mutyam V, Keeling KM, Mobley JA, Rowe SM, Bedwell DM, Welch EM, Jacobson A.

Proc Natl Acad Sci U S A. 2016 Nov 1;113(44):12508-12513. Epub 2016 Oct 4.


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 1;194(9):1092-1103.


Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I.

Li K, Turner AN, Chen M, Brosius SN, Schoeb TR, Messiaen LM, Bedwell DM, Zinn KR, Anastasaki C, Gutmann DH, Korf BR, Kesterson RA.

Dis Model Mech. 2016 Jul 1;9(7):759-67. doi: 10.1242/dmm.025783. Epub 2016 Jun 2.


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.


Characterization of defects in ion transport and tissue development in cystic fibrosis transmembrane conductance regulator (CFTR)-knockout rats.

Tuggle KL, Birket SE, Cui X, Hong J, Warren J, Reid L, Chambers A, Ji D, Gamber K, Chu KK, Tearney G, Tang LP, Fortenberry JA, Du M, Cadillac JM, Bedwell DM, Rowe SM, Sorscher EJ, Fanucchi MV.

PLoS One. 2014 Mar 7;9(3):e91253. doi: 10.1371/journal.pone.0091253. eCollection 2014.


Long-term nonsense suppression therapy moderates MPS I-H disease progression.

Gunn G, Dai Y, Du M, Belakhov V, Kandasamy J, Schoeb TR, Baasov T, Bedwell DM, Keeling KM.

Mol Genet Metab. 2014 Mar;111(3):374-381. doi: 10.1016/j.ymgme.2013.12.007. Epub 2013 Dec 17.


Marked repression of CFTR mRNA in the transgenic Cftr(tm1kth) mouse model.

Zhang S, Ranganath NK, Skinner D, Bedwell DM, Buckley-Lanier JA, Sorscher EJ, Woodworth BA.

J Cyst Fibros. 2014 May;13(3):351-2. doi: 10.1016/j.jcf.2013.11.009. Epub 2013 Dec 27. No abstract available.


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. doi: 10.1165/rcmb.2013-0282OC.


Heterozygosity for the F508del mutation in the cystic fibrosis transmembrane conductance regulator anion channel attenuates influenza severity.

Aeffner F, Abdulrahman B, Hickman-Davis JM, Janssen PM, Amer A, Bedwell DM, Sorscher EJ, Davis IC.

J Infect Dis. 2013 Sep 1;208(5):780-9. doi: 10.1093/infdis/jit251. Epub 2013 Jun 7.


Attenuation of nonsense-mediated mRNA decay enhances in vivo nonsense suppression.

Keeling KM, Wang D, Dai Y, Murugesan S, Chenna B, Clark J, Belakhov V, Kandasamy J, Velu SE, Baasov T, Bedwell DM.

PLoS One. 2013 Apr 10;8(4):e60478. doi: 10.1371/journal.pone.0060478. Print 2013.


Suppression of premature termination codons as a therapeutic approach.

Keeling KM, Wang D, Conard SE, Bedwell DM.

Crit Rev Biochem Mol Biol. 2012 Sep;47(5):444-63. doi: 10.3109/10409238.2012.694846. Epub 2012 Jun 7. Review.


Identification of eRF1 residues that play critical and complementary roles in stop codon recognition.

Conard SE, Buckley J, Dang M, Bedwell GJ, Carter RL, Khass M, Bedwell DM.

RNA. 2012 Jun;18(6):1210-21. doi: 10.1261/rna.031997.111. Epub 2012 Apr 27.


The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse.

Wang D, Belakhov V, Kandasamy J, Baasov T, Li SC, Li YT, Bedwell DM, Keeling KM.

Mol Genet Metab. 2012 Jan;105(1):116-25. doi: 10.1016/j.ymgme.2011.10.005. Epub 2011 Oct 19.


Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases.

Keeling KM, Bedwell DM.

Wiley Interdiscip Rev RNA. 2011 Nov-Dec;2(6):837-52. doi: 10.1002/wrna.95. Epub 2011 Jul 6. Review.


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. doi: 10.1007/s00109-011-0787-6. Epub 2011 Jul 22.


Enhancement of alveolar epithelial sodium channel activity with decreased cystic fibrosis transmembrane conductance regulator expression in mouse lung.

Lazrak A, Jurkuvenaite A, Chen L, Keeling KM, Collawn JF, Bedwell DM, Matalon S.

Am J Physiol Lung Cell Mol Physiol. 2011 Oct;301(4):L557-67. doi: 10.1152/ajplung.00094.2011. Epub 2011 Jul 8.


Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.

Wang D, Shukla C, Liu X, Schoeb TR, Clarke LA, Bedwell DM, Keeling KM.

Mol Genet Metab. 2010 Jan;99(1):62-71. doi: 10.1016/j.ymgme.2009.08.002. Erratum in: Mol Genet Metab. 2010 Apr;99(4):439.


Nonsense suppression activity of PTC124 (ataluren).

Peltz SW, Welch EM, Jacobson A, Trotta CR, Naryshkin N, Sweeney HL, Bedwell DM.

Proc Natl Acad Sci U S A. 2009 Jun 23;106(25):E64; author reply E65. doi: 10.1073/pnas.0901936106. Epub 2009 Jun 8. No abstract available.


Connection between stop codon reassignment and frequent use of shifty stop frameshifting.

Vallabhaneni H, Fan-Minogue H, Bedwell DM, Farabaugh PJ.

RNA. 2009 May;15(5):889-97. doi: 10.1261/rna.1508109. Epub 2009 Mar 27.


Poly-L-aspartic acid enhances and prolongs gentamicin-mediated suppression of the CFTR-G542X mutation in a cystic fibrosis mouse model.

Du M, Keeling KM, Fan L, Liu X, Bedwell DM.

J Biol Chem. 2009 Mar 13;284(11):6885-92. doi: 10.1074/jbc.M806728200. Epub 2009 Jan 9.


Distinct eRF3 requirements suggest alternate eRF1 conformations mediate peptide release during eukaryotic translation termination.

Fan-Minogue H, Du M, Pisarev AV, Kallmeyer AK, Salas-Marco J, Keeling KM, Thompson SR, Pestova TV, Bedwell DM.

Mol Cell. 2008 Jun 6;30(5):599-609. doi: 10.1016/j.molcel.2008.03.020.


PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model.

Du M, Liu X, Welch EM, Hirawat S, Peltz SW, Bedwell DM.

Proc Natl Acad Sci U S A. 2008 Feb 12;105(6):2064-9. doi: 10.1073/pnas.0711795105. Epub 2008 Feb 6.


Clinical doses of amikacin provide more effective suppression of the human CFTR-G542X stop mutation than gentamicin in a transgenic CF mouse model.

Du M, Keeling KM, Fan L, Liu X, Kovaçs T, Sorscher E, Bedwell DM.

J Mol Med (Berl). 2006 Jul;84(7):573-82. Epub 2006 Mar 16.


Aminoglycosides as potential pharmacogenetic agents in the treatment of Hailey-Hailey disease.

Kellermayer R, Szigeti R, Keeling KM, Bedekovics T, Bedwell DM.

J Invest Dermatol. 2006 Jan;126(1):229-31. No abstract available.


Distinct paths to stop codon reassignment by the variant-code organisms Tetrahymena and Euplotes.

Salas-Marco J, Fan-Minogue H, Kallmeyer AK, Klobutcher LA, Farabaugh PJ, Bedwell DM.

Mol Cell Biol. 2006 Jan;26(2):438-47.


Inhibition of phosphoglucomutase activity by lithium alters cellular calcium homeostasis and signaling in Saccharomyces cerevisiae.

Csutora P, Strassz A, Boldizsár F, Németh P, Sipos K, Aiello DP, Bedwell DM, Miseta A.

Am J Physiol Cell Physiol. 2005 Jul;289(1):C58-67. Epub 2005 Feb 9.


The Ca2+ homeostasis defects in a pgm2Delta strain of Saccharomyces cerevisiae are caused by excessive vacuolar Ca2+ uptake mediated by the Ca2+-ATPase Pmc1p.

Aiello DP, Fu L, Miseta A, Sipos K, Bedwell DM.

J Biol Chem. 2004 Sep 10;279(37):38495-502. Epub 2004 Jul 13.


Leaky termination at premature stop codons antagonizes nonsense-mediated mRNA decay in S. cerevisiae.

Keeling KM, Lanier J, Du M, Salas-Marco J, Gao L, Kaenjak-Angeletti A, Bedwell DM.

RNA. 2004 Apr;10(4):691-703.


Intracellular glucose 1-phosphate and glucose 6-phosphate levels modulate Ca2+ homeostasis in Saccharomyces cerevisiae.

Aiello DP, Fu L, Miseta A, Bedwell DM.

J Biol Chem. 2002 Nov 29;277(48):45751-8. Epub 2002 Sep 25.


Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTR-G542X transgene.

Du M, Jones JR, Lanier J, Keeling KM, Lindsey JR, Tousson A, Bebök Z, Whitsett JA, Dey CR, Colledge WH, Evans MJ, Sorscher EJ, Bedwell DM.

J Mol Med (Berl). 2002 Sep;80(9):595-604. Epub 2002 Jul 3.


Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis.

Clancy JP, Bebök Z, Ruiz F, King C, Jones J, Walker L, Greer H, Hong J, Wing L, Macaluso M, Lyrene R, Sorscher EJ, Bedwell DM.

Am J Respir Crit Care Med. 2001 Jun;163(7):1683-92.


Loss of the major isoform of phosphoglucomutase results in altered calcium homeostasis in Saccharomyces cerevisiae.

Fu L, Miseta A, Hunton D, Marchase RB, Bedwell DM.

J Biol Chem. 2000 Feb 25;275(8):5431-40.


Mutations in the yeast Hsp40 chaperone protein Ydj1 cause defects in Axl1 biogenesis and pro-a-factor processing.

Meacham GC, Browne BL, Zhang W, Kellermayer R, Bedwell DM, Cyr DM.

J Biol Chem. 1999 Nov 26;274(48):34396-402.


The vacuolar Ca2+/H+ exchanger Vcx1p/Hum1p tightly controls cytosolic Ca2+ levels in S. cerevisiae.

Miseta A, Kellermayer R, Aiello DP, Fu L, Bedwell DM.

FEBS Lett. 1999 May 21;451(2):132-6.


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