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Antisense suppression of the nonsense mediated decay factor Upf3b as a potential treatment for diseases caused by nonsense mutations.

Huang L, Low A, Damle SS, Keenan MM, Kuntz S, Murray SF, Monia BP, Guo S.

Genome Biol. 2018 Jan 15;19(1):4. doi: 10.1186/s13059-017-1386-9.


The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth.

Jolly LA, Homan CC, Jacob R, Barry S, Gecz J.

Hum Mol Genet. 2013 Dec 1;22(23):4673-87. doi: 10.1093/hmg/ddt315. Epub 2013 Jul 2.


Comparison of EJC-enhanced and EJC-independent NMD in human cells reveals two partially redundant degradation pathways.

Metze S, Herzog VA, Ruepp MD, Mühlemann O.

RNA. 2013 Oct;19(10):1432-48. doi: 10.1261/rna.038893.113. Epub 2013 Aug 20.


Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability.

Nguyen LS, Jolly L, Shoubridge C, Chan WK, Huang L, Laumonnier F, Raynaud M, Hackett A, Field M, Rodriguez J, Srivastava AK, Lee Y, Long R, Addington AM, Rapoport JL, Suren S, Hahn CN, Gamble J, Wilkinson MF, Corbett MA, Gecz J.

Mol Psychiatry. 2012 Nov;17(11):1103-15. doi: 10.1038/mp.2011.163. Epub 2011 Dec 20.


Dual function of UPF3B in early and late translation termination.

Neu-Yilik G, Raimondeau E, Eliseev B, Yeramala L, Amthor B, Deniaud A, Huard K, Kerschgens K, Hentze MW, Schaffitzel C, Kulozik AE.

EMBO J. 2017 Oct 16;36(20):2968-2986. doi: 10.15252/embj.201797079. Epub 2017 Sep 12.


Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.

Nguyen LS, Kim HG, Rosenfeld JA, Shen Y, Gusella JF, Lacassie Y, Layman LC, Shaffer LG, Gécz J.

Hum Mol Genet. 2013 May 1;22(9):1816-25. doi: 10.1093/hmg/ddt035. Epub 2013 Jan 31.


An alternative branch of the nonsense-mediated decay pathway.

Chan WK, Huang L, Gudikote JP, Chang YF, Imam JS, MacLean JA 2nd, Wilkinson MF.

EMBO J. 2007 Apr 4;26(7):1820-30. Epub 2007 Mar 15.


Processing bodies are not required for mammalian nonsense-mediated mRNA decay.

Stalder L, Mühlemann O.

RNA. 2009 Jul;15(7):1265-73. doi: 10.1261/rna.1672509. Epub 2009 May 27.


Nonsense mediated decay induced by tethered human UPF3B is restricted to the cytoplasm.

Lu S, Cullen BR.

RNA Biol. 2004 May;1(1):42-7. Epub 2004 May 8.


Targeting Translation Termination Machinery with Antisense Oligonucleotides for Diseases Caused by Nonsense Mutations.

Huang L, Aghajan M, Quesenberry T, Low A, Murray SF, Monia BP, Guo S.

Nucleic Acid Ther. 2019 Aug;29(4):175-186. doi: 10.1089/nat.2019.0779. Epub 2019 May 9.


ICE1 promotes the link between splicing and nonsense-mediated mRNA decay.

Baird TD, Cheng KC, Chen YC, Buehler E, Martin SE, Inglese J, Hogg JR.

Elife. 2018 Mar 12;7. pii: e33178. doi: 10.7554/eLife.33178.


Mechanism, factors, and physiological role of nonsense-mediated mRNA decay.

Fatscher T, Boehm V, Gehring NH.

Cell Mol Life Sci. 2015 Dec;72(23):4523-44. doi: 10.1007/s00018-015-2017-9. Epub 2015 Aug 18. Review.


A UPF3-mediated regulatory switch that maintains RNA surveillance.

Chan WK, Bhalla AD, Le Hir H, Nguyen LS, Huang L, Gécz J, Wilkinson MF.

Nat Struct Mol Biol. 2009 Jul;16(7):747-53. doi: 10.1038/nsmb.1612. Epub 2009 Jun 7.


New insights into the interplay between the translation machinery and nonsense-mediated mRNA decay factors.

Raimondeau E, Bufton JC, Schaffitzel C.

Biochem Soc Trans. 2018 Jun 19;46(3):503-512. doi: 10.1042/BST20170427. Epub 2018 Apr 6. Review.


Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.

Tarpey PS, Raymond FL, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, Smith R, Shoubridge C, Edkins S, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Raine K, Moon J, Luo Y, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gécz J.

Nat Genet. 2007 Sep;39(9):1127-33. Epub 2007 Aug 19.


Nonsense-mediated mRNA decay: inter-individual variability and human disease.

Nguyen LS, Wilkinson MF, Gecz J.

Neurosci Biobehav Rev. 2014 Oct;46 Pt 2:175-86. doi: 10.1016/j.neubiorev.2013.10.016. Epub 2013 Nov 14. Review.


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.


Arginine CGA codons as a source of nonsense mutations: a possible role in multivariant gene expression, control of mRNA quality, and aging.

Romanov GA, Sukhoverov VS.

Mol Genet Genomics. 2017 Oct;292(5):1013-1026. doi: 10.1007/s00438-017-1328-y. Epub 2017 May 18.


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.


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.

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