| 1 | UPF1, UPF3B
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| Dual function of UPF3B in early and late translation termination.
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| Neu-Yilik G, Raimondeau E, Eliseev B, Yeramala L, Amthor B, Deniaud A, Huard K, Kerschgens K, Hentze MW, Schaffitzel C, Kulozik AE.
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| EMBO J MBO J. 2017 Sep 12. pii: e201797079. doi: 10.15252/embj.201797079. [Epub ahead of print]
2017
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| 2 | UPF3A, UPF3B
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| RNA decay, evolution, and the testis.
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| Jones SH, Wilkinson M.
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| RNA Biol 14(2):146-155. doi: 10.1080/15476286.2016.1265199. Epub 2016 Dec 2.
2017
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| 3 | UPF1, UPF2, UPF3A, UPF3B
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| ATP hydrolysis by UPF1 is required for efficient translation termination at premature stop codons.
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| Serdar LD, Whiteside DL, Baker KE.
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| Nat Commun 7:14021. doi: 10.1038/ncomms14021.
2016
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| 4 | LJFS2, UPF3B, ZDHHC9
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| Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
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| 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.
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| Am J Med Genet A 170A(1):94-102. doi: 10.1002/ajmg.a.37378. Epub 2015 Sep 11.
2016
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| 5 | UPF3A, UPF3B
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| The Antagonistic Gene Paralogs Upf3a and Upf3b Govern Nonsense-Mediated RNA Decay.
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| 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.
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| Cell 165(2):382-95. doi: 10.1016/j.cell.2016.02.046. Epub 2016 Mar 31.
2016
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| 6 | UPF1, UPF3B
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| Full UPF3B function is critical for neuronal differentiation of neural stem cells.
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| Alrahbeni T, Sartor F, Anderson J, Miedzybrodzka Z, McCaig C, Müller B.
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| Mol Brain 8:33. doi: 10.1186/s13041-015-0122-1.
2015
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| 7 | SATB2, UPF3B
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| Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.
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| Leoyklang P, Suphapeetiporn K, Srichomthong C, Tongkobpetch S, Fietze S, Dorward H, Cullinane AR, Gahl WA, Huizing M, Shotelersuk V.
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| Hum Genet 132(12):1383-93. doi: 10.1007/s00439-013-1345-9. Epub 2013 Aug 8.
2013
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| 8 | UPF3A, UPF3B
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| The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth.
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| Jolly LA, Homan CC, Jacob R, Barry S, Gecz J.
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| Hum Mol Genet 22(23):4673-87. doi: 10.1093/hmg/ddt315. Epub 2013 Jul 2.
2013
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| 9 | MRXS14, UPF3B
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| Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree.
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| Xu X, Zhang L, Tong P, Xun G, Su W, Xiong Z, Zhu T, Zheng Y, Luo S, Pan Y, Xia K, Hu Z.
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| Clin Genet 83(6):560-4. doi: 10.1111/cge.12014. Epub 2012 Sep 28.
2013
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| 10 | MYCN, PIGV, UPF3B
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| Human intellectual disability genes form conserved functional modules in Drosophila.
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| Oortveld MA, Keerthikumar S, Oti M, Nijhof B, Fernandes AC, Kochinke K, Castells-Nobau A, van Engelen E, Ellenkamp T, Eshuis L, Galy A, van Bokhoven H, Habermann B, Brunner HG, Zweier C, Verstreken P, Huynen MA, Schenck A.
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| PLoS Genet 9(10):e1003911. doi: 10.1371/journal.pgen.1003911. Epub 2013 Oct 31.
2013
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| 11 | MRXS14, UPF3B
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| Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay.
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| Lynch SA, Nguyen LS, Ng LY, Waldron M, McDonald D, Gecz J.
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| Eur J Med Genet 55(8-9):476-9. doi: 10.1016/j.ejmg.2012.03.010. Epub 2012 Apr 25.
2012
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| 12 | FGS6, LJFS3, MRXS14, UPF3B
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| Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.
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| 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.
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| Mol Psychiatry 15(7):767-76. doi: 10.1038/mp.2009.14. Epub 2009 Feb 24.
2010
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| 13 | AP1S2, BRWD3, CASK, CUL4B, MRX65, MRX96, SLC9A6, SYP, UPF3B, ZDHHC9, ZNF711
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| A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
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| Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR.
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| Nat Genet 41(5):535-43. Epub 2009 Apr 19. 2009
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| 14 | UPF3A, UPF3B
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| A UPF3-mediated regulatory switch that maintains RNA surveillance.
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| Chan WK, Bhalla AD, Le Hir H, Nguyen LS, Huang L, Gécz J, Wilkinson MF.
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| Nat Struct Mol Biol 16(7):747-53. doi: 10.1038/nsmb.1612. Epub 2009 Jun 7.
2009
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| 15 | UPF1, UPF2, UPF3B
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| NMD factors UPF2 and UPF3 bridge UPF1 to the exon junction complex and stimulate its RNA helicase activity.
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| Chamieh H, Ballut L, Bonneau F, Le Hir H.
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| Nat Struct Mol Biol 15(1):85-93. Epub 2007 Dec 9.
2008
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| 16 | FGS6, LJFS2, MRXS14, UPF3B
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| Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
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| Tarpey PS, Lucy Raymond F, 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, Andrew Futreal P, Srivastava AK, Stratton MR, Gecz J.
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| Nat Genet 39(9):1127-33. Epub 2007 Aug 19. 2007
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| 17 | UPF3A, UPF3B
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| Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation.
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| Kunz JB, Neu-Yilik G, Hentze MW, Kulozik AE, Gehring NH.
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| RNA 12(6):1015-22. Epub 2006 Apr 6. 2006
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| 18 | UPF3B
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| Nonsense mediated decay induced by tethered human UPF3B is restricted to the cytoplasm.
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| Lu S, Cullen BR.
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| RNA Biol 1(1):42-7. Epub 2004 May 8.
2004
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| 19 | UPF2, UPF3A, UPF3B
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| Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4).
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| Serin G, Gersappe A, Black JD, Aronoff R, Maquat LE.
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| Mol Cell Biol 21(1):209-23. 2001
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| 20 | RNPS1, UPF3B
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| Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1.
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| Lykke-Andersen J, Shu MD, Steitz JA.
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| Science 293(5536):1836-9. 2001
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| 21 | RNPS1, UPF3A, UPF3B
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| Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex.
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| Kim VN, Kataoka N, Dreyfuss G.
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| Science 293(5536):1832-6. 2001
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| 22 | UPF2, UPF3A, UPF3B
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| Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon.
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| Lykke-Andersen J, Shu MD, Steitz JA.
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| Cell 103(7):1121-31. 2000
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