| Unveiling the role of UPF3B in hepatocellular carcinoma: Potential therapeutic target. | Unveiling the role of UPF3B in hepatocellular carcinoma: Potential therapeutic target.
Hou B, Shu M, Liu C, Du Y, Xu C, Jiang H, Hou J, Chen X, Wang L, Wu X., Free PMC Article | 09/18/2024 |
| Nonsense mediated decay factor UPF3B is associated with cMyBP-C haploinsufficiency in hypertrophic cardiomyopathy patients. | Nonsense mediated decay factor UPF3B is associated with cMyBP-C haploinsufficiency in hypertrophic cardiomyopathy patients.
Burkart V, Kowalski K, Disch A, Hilfiker-Kleiner D, Lal S, Dos Remedios C, Perrot A, Zeug A, Ponimaskin E, Kosanke M, Dittrich-Breiholz O, Kraft T, Montag J. | 12/5/2023 |
| Up-Frameshift Suppressor 3 as a prognostic biomarker and correlated with immune infiltrates: A pan-cancer analysis. | Up-Frameshift Suppressor 3 as a prognostic biomarker and correlated with immune infiltrates: A pan-cancer analysis.
Xu J, Ma H, Shan B., Free PMC Article | 10/15/2022 |
| Structures of nonsense-mediated mRNA decay factors UPF3B and UPF3A in complex with UPF2 reveal molecular basis for competitive binding and for neurodevelopmental disorder-causing mutation. | Structures of nonsense-mediated mRNA decay factors UPF3B and UPF3A in complex with UPF2 reveal molecular basis for competitive binding and for neurodevelopmental disorder-causing mutation.
Bufton JC, Powers KT, Szeto JA, Toelzer C, Berger I, Schaffitzel C., Free PMC Article | 06/18/2022 |
| Mammalian UPF3A and UPF3B can activate nonsense-mediated mRNA decay independently of their exon junction complex binding. | Mammalian UPF3A and UPF3B can activate nonsense-mediated mRNA decay independently of their exon junction complex binding.
Yi Z, Arvola RM, Myers S, Dilsavor CN, Abu Alhasan R, Carter BN, Patton RD, Bundschuh R, Singh G., Free PMC Article | 05/21/2022 |
| Human UPF3A and UPF3B enable fault-tolerant activation of nonsense-mediated mRNA decay. | Human UPF3A and UPF3B enable fault-tolerant activation of nonsense-mediated mRNA decay.
Wallmeroth D, Lackmann JW, Kueckelmann S, Altmüller J, Dieterich C, Boehm V, Gehring NH., Free PMC Article | 05/21/2022 |
| A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks. | A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks.
Domingo D, Nawaz U, Corbett M, Espinoza JL, Tatton-Brown K, Coman D, Wilkinson MF, Gecz J, Jolly LA., Free PMC Article | 09/4/2021 |
| RNAseq studies reveal that depletion of ICE1 globally enhances accumulation and stability of NMD-target mRNAs. Further, our data suggest that ICE1 uses a putative MIF4G domain to interact with exon junction complex (EJC) proteins and promotes the association of the NMD protein UPF3B with the EJC. | 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., Free PMC Article | 07/6/2019 |
| The authors discovered that UPF3B (i) interacts with the release factors, (ii) delays translation termination and (iii) dissociates post-termination ribosomal complexes that are devoid of the nascent peptide. | 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., Free PMC Article | 10/21/2017 |
| UPF3B gene mutation is associated with Lujan-Fryns syndrome. | 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. | 10/22/2016 |
| the neurodevelopmental phenotype of UPF3B missense mutation is caused by impairment of nonsense-mediated mRNA decay pathway function altering neuronal differentiation. | Full UPF3B function is critical for neuronal differentiation of neural stem cells.
Alrahbeni T, Sartor F, Anderson J, Miedzybrodzka Z, McCaig C, Müller B., Free PMC Article | 01/23/2016 |
| These findings indicate that SATB2 activates UPF3B expression through binding to its promoter. | 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., Free PMC Article | 01/25/2014 |
| Data indicate the mutation p.R430X of UPF3B gene as the genetic etiology in the mental retardation pedigree. | 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. | 12/7/2013 |
| results demonstrate that the UPF3B-dependent NMD pathway is a major regulator of the transcriptome and that its targets have important roles in neuronal cells. | 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., Free PMC Article | 04/27/2013 |
| The two cases with renal dysplasia and developmental delay showed remarkable clinical variability despite having the same mutation in UPF3B. | 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. | 01/26/2013 |
| Our results demonstrate that in addition to Lujan-Fryns and FG syndromes, UPF3B protein truncation mutations can cause also nonspecific XLMR. | 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. | 10/23/2010 |
| 3.4 A resolution crystal structure of a minimal UPF3b-EJC assembly, consisting of the interacting domains of five proteins (UPF3b, MAGO, Y14, eIF4AIII, and Barentsz) together with RNA and adenylyl-imidodiphosphate | 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., Free PMC Article | 07/5/2010 |
| Results suggest that UPF3A levels are tightly regulated by a post-transcriptional switch to maintain appropriate levels of NMD substrates in cells containing different levels of UPF3B. | A UPF3-mediated regulatory switch that maintains RNA surveillance.
Chan WK, Bhalla AD, Le Hir H, Nguyen LS, Huang L, Gécz J, Wilkinson MF. | 01/21/2010 |
| UPF2 and UPF3b cooperatively stimulate both ATPase and RNA helicase activities of UPF1. | NMD factors UPF2 and UPF3 bridge UPF1 to the exon junction complex and stimulate its RNA helicase activity.
Chamieh H, Ballut L, Bonneau F, Le Hir H. | 01/21/2010 |
| Three mutations lead to the introduction of a premature termination codon and subsequent nonsense-mediated mRNA decay of mutant UPF3B mRNA. | 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., Free PMC Article | 01/21/2010 |
| UPF3B induces nonsense mediated decay in the cytoplasm | Nonsense mediated decay induced by tethered human UPF3B is restricted to the cytoplasm.
Lu S, Cullen BR. | 01/21/2010 |
| The protein region that mediates this interaction and discriminates between hUpf3a and hUpf3b in NMD function is located in the C-terminal domain and fully contained within a small sequence that is highly conserved in Upf3b but not Upf3a proteins | Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation.
Kunz JB, Neu-Yilik G, Hentze MW, Kulozik AE, Gehring NH., Free PMC Article | 01/21/2010 |
| A conserved domain of hUpf3b mediates an interaction with the EJC protein Y14. Y14 is required for nonsense-mediated decay induced by tethered hUpf3b. | Y14 and hUpf3b form an NMD-activating complex.
Gehring NH, Neu-Yilik G, Schell T, Hentze MW, Kulozik AE. | 01/21/2010 |
| binds RNPS1 protein, part of the postsplicing complex deposited 5' to exon-exon junctions | Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1.
Lykke-Andersen J, Shu MD, Steitz JA. | 09/27/2001 |
| binds to spliced mRNAs upstream of exon-exon junctions; is part of mRNP complexes that are ready for nuclear export and that participate in nonsense-mediated mRNA decay | Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex.
Kim VN, Kataoka N, Dreyfuss G. | 09/28/2001 |