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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.


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.


Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree.

Xu X, Zhang L, Tong P, Xun G, Su W, Xiong Z, Zhu T, Zheng Y, Luo S, Pan Y, Xia K, Hu Z.

Clin Genet. 2013 Jun;83(6):560-4. doi: 10.1111/cge.12014. Epub 2012 Sep 28.


Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay.

Lynch SA, Nguyen LS, Ng LY, Waldron M, McDonald D, Gecz J.

Eur J Med Genet. 2012 Aug-Sep;55(8-9):476-9. doi: 10.1016/j.ejmg.2012.03.010. Epub 2012 Apr 25.


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.


A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.

Addington AM, Gauthier J, Piton A, Hamdan FF, Raymond A, Gogtay N, Miller R, Tossell J, Bakalar J, Inoff-Germain G, Gochman P, Long R, Rapoport JL, Rouleau GA.

Mol Psychiatry. 2011 Mar;16(3):238-9. doi: 10.1038/mp.2010.59. Epub 2010 May 18. No abstract available. Erratum in: Mol Psychiatry. 2012 Apr;17(4):468. Germain, G [corrected to Inoff-Germain, G].


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.


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.


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.


Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Hackmann K, Rump A, Haas SA, Lemke JR, Fryns JP, Tzschach A, Wieczorek D, Albrecht B, Kuechler A, Ripperger T, Kobelt A, Oexle K, Tinschert S, Schrock E, Kalscheuer VM, Di Donato N.

Am J Med Genet A. 2016 Jan;170A(1):94-102. doi: 10.1002/ajmg.a.37378. Epub 2015 Sep 11.


Remodeling of the pioneer translation initiation complex involves translation and the karyopherin importin beta.

Sato H, Maquat LE.

Genes Dev. 2009 Nov 1;23(21):2537-50. doi: 10.1101/gad.1817109.


The structural basis for the interaction between nonsense-mediated mRNA decay factors UPF2 and UPF3.

Kadlec J, Izaurralde E, Cusack S.

Nat Struct Mol Biol. 2004 Apr;11(4):330-7. Epub 2004 Mar 7.


Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.

Leoyklang P, Suphapeetiporn K, Srichomthong C, Tongkobpetch S, Fietze S, Dorward H, Cullinane AR, Gahl WA, Huizing M, Shotelersuk V.

Hum Genet. 2013 Dec;132(12):1383-93. doi: 10.1007/s00439-013-1345-9. Epub 2013 Aug 8.


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.


Y14 and hUpf3b form an NMD-activating complex.

Gehring NH, Neu-Yilik G, Schell T, Hentze MW, Kulozik AE.

Mol Cell. 2003 Apr;11(4):939-49.


Insights into the recruitment of the NMD machinery from the crystal structure of a core EJC-UPF3b complex.

Buchwald G, Ebert J, Basquin C, Sauliere J, Jayachandran U, Bono F, Le Hir H, Conti E.

Proc Natl Acad Sci U S A. 2010 Jun 1;107(22):10050-5. doi: 10.1073/pnas.1000993107. Epub 2010 May 17.


The hierarchy of exon-junction complex assembly by the spliceosome explains key features of mammalian nonsense-mediated mRNA decay.

Gehring NH, Lamprinaki S, Hentze MW, Kulozik AE.

PLoS Biol. 2009 May 26;7(5):e1000120. doi: 10.1371/journal.pbio.1000120. Epub 2009 May 26.

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