Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

被引：0
|
作者：
Michael Niblock
Bradley N. Smith
Youn-Bok Lee
Valentina Sardone
Simon Topp
Claire Troakes
Safa Al-Sarraj
Claire S. Leblond
Patrick A. Dion
Guy A. Rouleau
Christopher E. Shaw
Jean-Marc Gallo
机构：
[1] Institute of Psychiatry,Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute
[2] Psychology and Neuroscience,London Neurodegenerative Disease Brain Bank
[3] King’s College London,Montreal Neurological Institute and Hospital
[4] Institute of Psychiatry,undefined
[5] Psychology and Neuroscience,undefined
[6] King’s College London,undefined
[7] McGill University,undefined
来源：
Acta Neuropathologica Communications | / 4卷
关键词：
Amyotrophic lateral sclerosis; Frontotemporal dementia; RNA; Repeats; Splicing;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [31] Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS
    Sokratous, Maria
    Lucia, Schottlaender
    Bourinaris, Thomas
    Marogianni, Chrysoula
    Arnaoutoglou, Marianthi
    Patrikiou, Eleni
    Ralli, Styliani
    Markou, Aikaterini
    Dardiotis, Efthimios
    Houlden, Henry
    Hadjigeorgiou, Georgios M.
    Xiromerisiou, Georgia
    AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 2020, 21 (5-6) : 470 - 472
  • [32] A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan
    Tsai, Ching-Paio
    Soong, Bing-Wen
    Tu, Pang-Hsien
    Lin, Kon-Ping
    Fuh, Jong-Ling
    Tsai, Pei-Chien
    Lu, Yi-Chun
    Lee, I-Hui
    Lee, Yi-Chung
    NEUROBIOLOGY OF AGING, 2012, 33 (09) : 2232.e11 - 2232.e18
  • [33] Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
    DeJesus-Hernandez, Mariely
    Mackenzie, Ian R.
    Boeve, Bradley F.
    Boxer, Adam L.
    Baker, Matt
    Rutherford, Nicola J.
    Nicholson, Alexandra M.
    Finch, NiCole A.
    Flynn, Heather
    Adamson, Jennifer
    Kouri, Naomi
    Wojtas, Aleksandra
    Sengdy, Pheth
    Hsiung, Ging-Yuek R.
    Karydas, Anna
    Seeley, William W.
    Josephs, Keith A.
    Coppola, Giovanni
    Geschwind, Daniel H.
    Wszolek, Zbigniew K.
    Feldman, Howard
    Knopman, David S.
    Petersen, Ronald C.
    Miller, Bruce L.
    Dickson, Dennis W.
    Boylan, Kevin B.
    Graff-Radford, Neill R.
    Rademakers, Rosa
    NEURON, 2011, 72 (02) : 245 - 256
  • [34] Crystal structure of a tetrameric RNA G-quadruplex formed by hexanucleotide repeat expansions of C9orf72 in ALS/FTD
    Geng, Yanyan
    Liu, Changdong
    Xu, Naining
    Suen, Monica Ching
    Miao, Haitao
    Xie, Yuanyuan
    Zhang, Bingchang
    Chen, Xueqin
    Song, Yuanjian
    Wang, Zhanxiang
    Cai, Qixu
    Zhu, Guang
    NUCLEIC ACIDS RESEARCH, 2024, 52 (13) : 7961 - 7970
  • [35] Nuclear export and translation of circular repeat-containing intronic RNA in C9ORF72-ALS/FTD
    Wang, Shaopeng
    Latallo, Malgorzata J.
    Zhang, Zhe
    Huang, Bo
    Bobrovnikov, Dmitriy G.
    Dong, Daoyuan
    Livingston, Nathan M.
    Tjoeng, Wilson
    Hayes, Lindsey R.
    Rothstein, Jeffrey D.
    Ostrow, Lyle W.
    Wu, Bin
    Sun, Shuying
    NATURE COMMUNICATIONS, 2021, 12 (01)
  • [36] Countering C9ORF72 Dipeptide Repeat Protein Toxicity Implicated in ALS/FTD
    Sprunger, Macy L.
    Jackrel, Meredith E.
    ANNALS OF NEUROLOGY, 2019, 86 : S105 - S105
  • [37] Nuclear export and translation of circular repeat-containing intronic RNA in C9ORF72-ALS/FTD
    Shaopeng Wang
    Malgorzata J. Latallo
    Zhe Zhang
    Bo Huang
    Dmitriy G. Bobrovnikov
    Daoyuan Dong
    Nathan M. Livingston
    Wilson Tjoeng
    Lindsey R. Hayes
    Jeffrey D. Rothstein
    Lyle W. Ostrow
    Bin Wu
    Shuying Sun
    Nature Communications, 12
  • [38] C9orf72 Hypermethylation Influences Repeat Expansion Associated Pathology in ALS/FTD
    Liu, Elaine
    Russ, Jenny
    Wu, Kathryn
    Neal, Donald
    Suh, Eunran
    McNally, Anna
    Irwin, David
    Van Deerlin, Vivianna
    Lee, Edward B.
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2014, 73 (06): : 620 - 620
  • [39] The role of the C9ORF72 hexanucleotide repeat size in dementia
    Koenig, T.
    Wurm, R.
    Parvizi, T.
    Silvaieh, S.
    Hotzy, C.
    Zimprich, F.
    Zimprich, A.
    Stoegmann, E.
    EUROPEAN JOURNAL OF NEUROLOGY, 2021, 28 : 365 - 365
  • [40] Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72
    Zhu, Qiang
    Jiang, Jie
    Gendron, Tania F.
    McAlonis-Downes, Melissa
    Jiang, Lulin
    Taylor, Amy
    Garcia, Sandra Diaz
    Dastidar, Somasish Ghosh
    Rodriguez, Maria J.
    King, Patrick
    Zhang, Yongjie
    La Spada, Albert R.
    Xu, Huaxi
    Petrucelli, Leonard
    Ravits, John
    Da Cruz, Sandrine
    Lagier-Tourenne, Clotilde
    Cleveland, Don W.
    NATURE NEUROSCIENCE, 2020, 23 (05) : 615 - U33
12345