CRESTing the ALS mountain

被引:0
|
作者
Renton, Alan E. [1 ]
Traynor, Bryan J. [2 ]
机构
[1] NIA, Neuromuscular Dis Res Unit, Neurogenet Lab, NIH, Bethesda, MD 20892 USA
[2] Johns Hopkins Univ Hosp, Dept Neurol, Brain Sci Inst, Baltimore, MD 21287 USA
关键词
PRION-LIKE DOMAINS; MUTATIONS; GENE; PROTEINS; FUS;
D O I
10.1038/nn.3444
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
Chesi et al. use exome sequencing of trios consisting of subjects with amyotrophic lateral sclerosis and their parents to find de novo variants in 25 genes, one of which is the chromatin regulator SS18L1 (CREST).
引用
收藏
页码:774 / 775
页数:3
相关论文
共 50 条
  • [31] Familial ALS: less common than we think?
    Belzil, Veronique V.
    Rouleau, Guy A.
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2012, 83 (12) : 1133 - 1133
  • [32] Intricate interplay between astrocytes and motor neurons in ALS
    Phatnani, Hemali P.
    Guarnieri, Paolo
    Friedman, Brad A.
    Carrasco, Monica A.
    Muratet, Michael
    O'Keeffe, Sean
    Nwakeze, Chiamaka
    Pauli-Behn, Florencia
    Newberry, Kimberly M.
    Meadows, Sarah K.
    Tapia, Juan Carlos
    Myers, Richard M.
    Maniatis, Tom
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2013, 110 (08) : E756 - E765
  • [33] Using human frameshift mutations to dissect the pathobiology of ALS
    Devoy, Anny
    Jaeger, Julian
    Park, Heesoon
    Acevedo-Arozena, Abraham
    Fisher, Elizabeth
    TRANSGENIC RESEARCH, 2016, 25 (02) : 229 - 229
  • [34] Pathophysiological implications of RNP granules in frontotemporal dementia and ALS
    Desai, Perlina
    Bandopadhyay, Rina
    NEUROCHEMISTRY INTERNATIONAL, 2020, 140
  • [35] ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?
    Mejzini, Rita
    Flynn, Loren L.
    Pitout, Lanthe L.
    Fletcher, Sue
    Wilton, Steve D.
    Akkari, P. Anthony
    FRONTIERS IN NEUROSCIENCE, 2019, 13
  • [36] The era of cryptic exons: implications for ALS-FTD
    Mehta, Puja R.
    Brown, Anna-Leigh
    Ward, Michael E.
    Fratta, Pietro
    MOLECULAR NEURODEGENERATION, 2023, 18 (01)
  • [37] ALS and Frontotemporal Dementia - Case Report and Review of the Literature
    Nass, R. D.
    Meister, I. G.
    Haupt, W. F.
    Fink, G. R.
    FORTSCHRITTE DER NEUROLOGIE PSYCHIATRIE, 2012, 80 (12) : 711 - 719
  • [38] FUS is sequestered in nuclear aggregates in ALS patient fibroblasts
    Schwartz, Jacob C.
    Podell, Elaine R.
    Han, Steve S. W.
    Berry, James D.
    Eggan, Kevin C.
    Cech, Thomas R.
    MOLECULAR BIOLOGY OF THE CELL, 2014, 25 (17) : 2571 - 2578
  • [39] Edaravone in ALS
    Takahashi, Ryosuke
    EXPERIMENTAL NEUROLOGY, 2009, 217 (02) : 235 - 236
  • [40] Different recognition modes of G-quadruplex RNA between two ALS/FTLD-linked proteins TDP-43 and FUS
    Ishiguro, Akira
    Katayama, Akira
    Ishihama, Akira
    FEBS LETTERS, 2021, 595 (03) : 310 - 323