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Items: 1 to 20 of 103

1.

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.

2.

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.

PMID:
23821644
3.

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.

PMID:
23376982
4.

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.

PMID:
19503078
5.

Full UPF3B function is critical for neuronal differentiation of neural stem cells.

Alrahbeni T, Sartor F, Anderson J, Miedzybrodzka Z, McCaig C, Müller B.

Mol Brain. 2015 May 27;8:33. doi: 10.1186/s13041-015-0122-1.

6.

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.

7.

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.

8.

The Antagonistic Gene Paralogs Upf3a and Upf3b Govern Nonsense-Mediated RNA Decay.

Shum EY, Jones SH, Shao A, Dumdie J, Krause MD, Chan WK, Lou CH, Espinoza JL, Song HW, Phan MH, Ramaiah M, Huang L, McCarrey JR, Peterson KJ, De Rooij DG, Cook-Andersen H, Wilkinson MF.

Cell. 2016 Apr 7;165(2):382-95. doi: 10.1016/j.cell.2016.02.046. Epub 2016 Mar 31.

9.

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.

10.

An EJC factor RBM8a regulates anxiety behaviors.

Alachkar A, Jiang D, Harrison M, Zhou Y, Chen G, Mao Y.

Curr Mol Med. 2013 Jul;13(6):887-99.

PMID:
23638902
11.

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.

PMID:
17194930
12.

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.

Laumonnier F, Shoubridge C, Antar C, Nguyen LS, Van Esch H, Kleefstra T, Briault S, Fryns JP, Hamel B, Chelly J, Ropers HH, Ronce N, Blesson S, Moraine C, Gécz J, Raynaud M.

Mol Psychiatry. 2010 Jul;15(7):767-76. doi: 10.1038/mp.2009.14. Epub 2009 Feb 24.

PMID:
19238151
13.

The application of nonsense-mediated mRNA decay inhibition to the identification of breast cancer susceptibility genes.

Johnson JK, Waddell N; kConFab Investigators, Chenevix-Trench G.

BMC Cancer. 2012 Jun 15;12:246. doi: 10.1186/1471-2407-12-246.

14.

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.

15.

Regulation of nonsense-mediated mRNA decay.

Huang L, Wilkinson MF.

Wiley Interdiscip Rev RNA. 2012 Nov-Dec;3(6):807-28. doi: 10.1002/wrna.1137. Epub 2012 Oct 1. Review.

PMID:
23027648
16.

RNA decay, evolution, and the testis.

Jones SH, Wilkinson M.

RNA Biol. 2017 Feb;14(2):146-155. doi: 10.1080/15476286.2016.1265199. Epub 2016 Dec 2.

PMID:
27911186
17.

Regulation of natural mRNAs by the nonsense-mediated mRNA decay pathway.

Peccarelli M, Kebaara BW.

Eukaryot Cell. 2014 Sep;13(9):1126-35. doi: 10.1128/EC.00090-14. Epub 2014 Jul 18. Review.

18.

Nonsense-mediated mRNA decay: an intricate machinery that shapes transcriptomes.

Lykke-Andersen S, Jensen TH.

Nat Rev Mol Cell Biol. 2015 Nov;16(11):665-77. doi: 10.1038/nrm4063. Epub 2015 Sep 23. Review.

PMID:
26397022
19.

Nonsense in the Testis: Multiple Roles for Nonsense-Mediated Decay Revealed in Male Reproduction.

MacDonald CC, Grozdanov PN.

Biol Reprod. 2017 Apr 22. doi: 10.1093/biolre/iox033. [Epub ahead of print]

PMID:
28444146
20.

Regulation of nonsense-mediated mRNA decay: implications for physiology and disease.

Karam R, Wengrod J, Gardner LB, Wilkinson MF.

Biochim Biophys Acta. 2013 Jun-Jul;1829(6-7):624-33. doi: 10.1016/j.bbagrm.2013.03.002. Epub 2013 Mar 13.

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