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119 results

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Page 1
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.
Romano F, Haanpää MK, Pomianowski P, Peraino AR, Pollard JR, Di Feo MF, Traverso M, Severino M, Derchi M, Henzen E, Zara F, Faravelli F, Capra V, Scala M. Romano F, et al. Am J Med Genet A. 2024 Jun;194(6):e63534. doi: 10.1002/ajmg.a.63534. Epub 2024 Feb 6. Am J Med Genet A. 2024. PMID: 38318947 Free article. Review.
Here we report three subjects harboring UPF3B variants, presenting with variable clinical pictures, including cognitive impairment, central hypotonia, and syndromic features. ...Overall, the detailed phenotypic description of three patients carrying UPF3B variants i …
Here we report three subjects harboring UPF3B variants, presenting with variable clinical pictures, including cognitive impairment, c …
HnRNPR-mediated UPF3B mRNA splicing drives hepatocellular carcinoma metastasis.
Wang H, Qian D, Wang J, Liu Y, Luo W, Zhang H, Cheng J, Li H, Wu Y, Li W, Wang J, Yang X, Zhang T, Han D, Wang Q, Zhang CZ, Liu L. Wang H, et al. J Adv Res. 2025 Feb;68:257-270. doi: 10.1016/j.jare.2024.02.010. Epub 2024 Feb 24. J Adv Res. 2025. PMID: 38402949 Free PMC article.
OBJECTIVES: This study aims to investigate the functional implications of UPF3B-S (a truncated oncogenic splice variant) in HCC metastasis. METHODS: Basescope assay was performed to analyze the expression of UPF3B-S mRNA in tissues and cells. RNA immunoprecipitation …
OBJECTIVES: This study aims to investigate the functional implications of UPF3B-S (a truncated oncogenic splice variant) in HCC metas …
UPF3B modulates endoplasmic reticulum stress through interaction with inositol-requiring enzyme-1alpha.
Sun X, Lin R, Lu X, Wu Z, Qi X, Jiang T, Jiang J, Mu P, Chen Q, Wen J, Deng Y. Sun X, et al. Cell Death Dis. 2024 Aug 13;15(8):587. doi: 10.1038/s41419-024-06973-3. Cell Death Dis. 2024. PMID: 39138189 Free PMC article.
In this study, we found that the three NMD factors, up-frameshift (UPF)1, UPF2, or UPF3B, were required to negate the UPR. Among these three NMD factors, only UPF3B interacted with inositol-requiring enzyme-1alpha (IRE1alpha). ...Both the UPF3B(Y160D) genetic …
In this study, we found that the three NMD factors, up-frameshift (UPF)1, UPF2, or UPF3B, were required to negate the UPR. Among thes …
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. Wallmeroth D, et al. EMBO J. 2022 May 16;41(10):e109191. doi: 10.15252/embj.2021109191. Epub 2022 Apr 22. EMBO J. 2022. PMID: 35451084 Free PMC article.
Here, we present a comprehensive functional analysis of UPF3A and UPF3B in human cells using combinatory experimental approaches. Overexpression or knockout of UPF3A as well as knockout of UPF3B did not substantially change global NMD activity. ...Collectively, UPF3 …
Here, we present a comprehensive functional analysis of UPF3A and UPF3B in human cells using combinatory experimental approaches. Ove …
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. Domingo D, et al. Hum Mol Genet. 2020 Aug 29;29(15):2568-2578. doi: 10.1093/hmg/ddaa151. Hum Mol Genet. 2020. PMID: 32667670 Free PMC article.
Loss-of-function mutations of the X-chromosome gene UPF3B cause male neurodevelopmental disorders (NDDs) via largely unknown mechanisms. We investigated initially by interrogating a novel synonymous UPF3B variant in a male with absent speech. ...UPF3B mRNA wa …
Loss-of-function mutations of the X-chromosome gene UPF3B cause male neurodevelopmental disorders (NDDs) via largely unknown mechanis …
The role of the NMD factor UPF3B in olfactory sensory neurons.
Tan K, Jones SH, Lake BB, Chousal JN, Shum EY, Zhang L, Chen S, Sohni A, Pandya S, Gallo RL, Zhang K, Cook-Andersen H, Wilkinson MF. Tan K, et al. Elife. 2020 Aug 10;9:e57525. doi: 10.7554/eLife.57525. Elife. 2020. PMID: 32773035 Free PMC article.
The UPF3B-dependent branch of the nonsense-mediated RNA decay (NMD) pathway is critical for human cognition. Here, we examined the role of UPF3B in the olfactory system. Single-cell RNA-sequencing (scRNA-seq) analysis demonstrated considerable heterogeneity of olfac …
The UPF3B-dependent branch of the nonsense-mediated RNA decay (NMD) pathway is critical for human cognition. Here, we examined the ro …
A Upf3b-mutant mouse model with behavioral and neurogenesis defects.
Huang L, Shum EY, Jones SH, Lou CH, Chousal J, Kim H, Roberts AJ, Jolly LA, Espinoza JL, Skarbrevik DM, Phan MH, Cook-Andersen H, Swerdlow NR, Gecz J, Wilkinson MF. Huang L, et al. Mol Psychiatry. 2018 Aug;23(8):1773-1786. doi: 10.1038/mp.2017.173. Epub 2017 Sep 26. Mol Psychiatry. 2018. PMID: 28948974 Free PMC article.
Here, we report the generation and characterization of mice harboring a null Upf3b allele. These Upf3b-null mice exhibit deficits in fear-conditioned learning, but not spatial learning. ...We suggest Upf3b-null mice serve as a novel model system to decipher c …
Here, we report the generation and characterization of mice harboring a null Upf3b allele. These Upf3b-null mice exhibit defic …
An RNA decay factor wears a new coat: UPF3B modulates translation termination.
Gao Z, Wilkinson M. Gao Z, et al. F1000Res. 2017 Dec 20;6:2159. doi: 10.12688/f1000research.12704.1. eCollection 2017. F1000Res. 2017. PMID: 29333258 Free PMC article. Review.
Neu-Yilik et al. now report a new function for UPF3B: it modulates translation termination. Using a fully reconstituted in vitro translation system, they find that UPF3B has two roles in translation termination. ...This implies that UPF3B could promote riboso …
Neu-Yilik et al. now report a new function for UPF3B: it modulates translation termination. Using a fully reconstituted in vitro tran …
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. Hou B, et al. Cancer Sci. 2024 Aug;115(8):2646-2658. doi: 10.1111/cas.16240. Epub 2024 Jun 18. Cancer Sci. 2024. PMID: 38889220 Free PMC article.
RNA-binding proteins can regulate nucleotide metabolism and gene expression. UPF3B regulator of nonsense mediated mRNA decay (UPF3B) exhibits dysfunction in cancers. ...E2F transcription factor 6 (E2F6) directly binds to the UPF3B promoter to facilitate its t …
RNA-binding proteins can regulate nucleotide metabolism and gene expression. UPF3B regulator of nonsense mediated mRNA decay (UPF3 …
119 results