The mechanism through which nonsense mutations are recognized as premature translation-termination codons

被引：0
|
作者：
Romao, L. [1 ,2 ]
Onofre, Claudia [1 ,2 ]
Menezes, Juliane [1 ,2 ]
Peixeiro, Isabel [1 ,2 ]
Barbosa, Cristina [1 ,2 ]
机构：
[1] Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, Portugal
[2] Univ Lisbon, Fac Ciencias, Biosyst & Integrat Sci Inst BioISI, Lisbon, Portugal
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P13.21A
引用
收藏
页码：621 / 621
页数：1
相关论文
共 50 条
  • [41] New mutations causing the premature termination of translation in the a subunit gene of coagulation factor XIII
    Kangsadalampai, S
    FargesBerth, A
    Caglayan, SH
    Board, PG
    THROMBOSIS AND HAEMOSTASIS, 1996, 76 (02) : 139 - 142
  • [42] Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay
    Guissart, Claire
    Mouzat, Kevin
    Kantar, Jovana
    Louveau, Baptiste
    Vilquin, Paul
    Polge, Anne
    Raoul, Cedric
    Lumbroso, Serge
    SCIENTIFIC REPORTS, 2020, 10 (01)
  • [43] Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay
    Claire Guissart
    Kevin Mouzat
    Jovana Kantar
    Baptiste Louveau
    Paul Vilquin
    Anne Polge
    Cédric Raoul
    Serge Lumbroso
    Scientific Reports, 10
  • [44] The position of premature termination codons in the hepatocyte nuclear factor-1 beta gene determines susceptibility to nonsense-mediated decay
    Harries, LW
    Bingham, C
    Bellanne-Chantelot, C
    Hattersley, AT
    Ellard, S
    HUMAN GENETICS, 2005, 118 (02) : 214 - 224
  • [45] In vitro rescue of nonsense variations by drug-induced readthrough of premature termination codons in progressive familial intrahepatic cholestasis type 2
    Lapalus, Martine
    Mareux, Elodie
    Amzal, Rachida
    Almes, Marion
    Thebaut, Alice
    Lakli, Mounia
    Falguieres, Thomas
    Rebuffat, Sylvie
    Bidou, Laure
    Namy, Olivier
    Jacquemin, Emmanuel
    Gonzales, Emmanuel
    JOURNAL OF HEPATOLOGY, 2022, 77 : S514 - S514
  • [46] Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons
    Lai, CH
    Chun, HH
    Nahas, SA
    Mitui, M
    Gamo, KM
    Du, L
    Gatti, RA
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2004, 101 (44) : 15676 - 15681
  • [47] TLN468 changes the pattern of tRNA used to read through premature termination codons in CFTR
    Karri, Sabrina
    Cornu, David
    Serot, Claudia
    Biri, Lynda
    Hatton, Aurelie
    Dreanot, Elise
    Rullaud, Camille
    Pranke, Iwona
    Sermet-Gaudelus, Isabelle
    Hinzpeter, Alexandre
    Bidou, Laure
    Namy, Olivier
    JOURNAL OF CYSTIC FIBROSIS, 2024, 23 (06) : 1185 - 1194
  • [48] Investigation of the mechanism of adaptation to mutations in the translation termination factor genes in yeast
    Maksiutenko, E.
    Moskalenko, S.
    Lenyashina, M.
    Barbitoff, Y.
    Matveenko, A.
    Zhouravleva, G.
    FEBS OPEN BIO, 2021, 11 : 117 - 117
  • [49] Nonsense-mediated translational repression involves exon junction complex downstream of premature translation termination codon
    Lee, Hyung Chul
    Oh, Nara
    Cho, Hana
    Choe, Junho
    Kim, Yoon Ki
    FEBS LETTERS, 2010, 584 (04) : 795 - 800
  • [50] Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: Analysis of potential premature termination codons
    Wilkin, DJ
    Liberfarb, R
    Davis, J
    Levy, HP
    Cole, WG
    Francomano, CA
    Cohn, DH
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 94 (02): : 141 - 148
12345