A nonconservative amino acid change in the UPF3B gene in a patient with schizophrenia

被引:16
|
作者
Szyszka, Paulina [1 ]
Sharp, Sally I. [1 ]
Dedman, Alexandra [1 ]
Gurling, Hugh M. D. [1 ]
McQuillin, Andrew [1 ]
机构
[1] UCL, Mol Psychiat Lab, Res Dept Mental Hlth Sci, London WC1E 6BT, England
基金
英国医学研究理事会;
关键词
D O I
10.1097/YPG.0b013e32834accbe
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:150 / 151
页数:2
相关论文
共 50 条
  • [1] The Antagonistic Gene Paralogs Upf3a and Upf3b Govern Nonsense-Mediated RNA Decay
    Shum, Eleen Y.
    Jones, Samantha H.
    Shao, Ada
    Chousal, Jennifer N.
    Krause, Matthew D.
    Chan, Wai-Kin
    Lou, Chih-Hong
    Espinoza, Josh L.
    Song, Hye-Won
    Phan, Mimi H.
    Ramaiah, Madhuvanthi
    Huang, Lulu
    McCarrey, John R.
    Peterson, Kevin J.
    De Rooij, Dirk G.
    Cook-Andersen, Heidi
    Wilkinson, Miles F.
    CELL, 2016, 165 (02) : 382 - 395
  • [2] The role of the NMD factor UPF3B in olfactory sensory neurons
    Tan, Kun
    Jones, Samantha H.
    Lake, Blue B.
    Dumdie, Jennifer N.
    Shum, Eleen Y.
    Zhang, Lingjuan
    Chen, Song
    Sohni, Abhishek
    Pandya, Shivam
    Gallo, Richard L.
    Zhang, Kun
    Cook-Andersen, Heidi
    Wilkinson, Miles F.
    ELIFE, 2020, 9
  • [3] Dual function of UPF3B in early and late translation termination
    Neu-Yilik, Gabriele
    Raimondeau, Etienne
    Eliseev, Boris
    Yeramala, Lahari
    Amthor, Beate
    Deniaud, Aurelien
    Huard, Karine
    Kerschgens, Kathrin
    Hentze, Matthias W.
    Schaffitzel, Christiane
    Kulozik, Andreas E.
    EMBO JOURNAL, 2017, 36 (20): : 2968 - 2986
  • [4] A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders
    Addington, A. M.
    Gauthier, J.
    Piton, A.
    Hamdan, F. F.
    Raymond, A.
    Gogtay, N.
    Miller, R.
    Tossell, J.
    Bakalar, J.
    Germain, G.
    Gochman, P.
    Long, R.
    Rapoport, J. L.
    Rouleau, G. A.
    MOLECULAR PSYCHIATRY, 2011, 16 (03) : 238 - 239
  • [5] UPF3B gene deletion in a patient with severe intellectual disability, epilepsy, absent speech: problematic of array-CGH coverage
    Melo, J. B.
    Ferreira, S. I.
    Ramos, L.
    Pinto, M.
    Jardim, A.
    Carreira, I. M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 943 - 943
  • [6] New functions in translation termination uncovered for NMD factor UPF3B
    Muhlemann, Oliver
    Karousis, Evangelos D.
    EMBO JOURNAL, 2017, 36 (20): : 2928 - 2930
  • [7] A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders
    A M Addington
    J Gauthier
    A Piton
    F F Hamdan
    A Raymond
    N Gogtay
    R Miller
    J Tossell
    J Bakalar
    G Germain
    P Gochman
    R Long
    J L Rapoport
    G A Rouleau
    Molecular Psychiatry, 2011, 16 : 238 - 239
  • [8] EXPANDING THE PHENOTYPE OF RARE X-LIKNKED INTELLECTUAL DISABILITY SYNDROME CAUSED BY UPF3B GENE
    Haanpaa, M. K.
    Koillinen, H.
    Ignatius, J.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (04) : 911 - 912
  • [9] The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth
    Jolly, Lachlan A.
    Homan, Claire C.
    Jacob, Reuben
    Barry, Simon
    Gecz, Jozef
    HUMAN MOLECULAR GENETICS, 2013, 22 (23) : 4673 - 4687
  • [10] Unveiling the role of UPF3B in hepatocellular carcinoma: Potential therapeutic target
    Hou, Bowen
    Shu, Min
    Liu, Chenghao
    Du, Yunfeng
    Xu, Cuicui
    Jiang, Huijiao
    Hou, Jun
    Chen, Xueling
    Wang, Lianghai
    Wu, Xiangwei
    CANCER SCIENCE, 2024, 115 (08) : 2646 - 2658