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Publication Detail
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Article
  • Authors:
    Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, Marrero-Gagliardi A, Stewart M, Mianne J, Corrochano S, Emmett W, Codner G, Groves M, Fukumura R, Gondo Y, Lythgoe M, Pauws E, Peskett E, Stanier P, Teboul L, Hallegger M, Calvo A, ChiĆ² A, Isaacs AM, Fawzi NL, Wang E, Housman DE, Baralle F, Greensmith L, Buratti E, Plagnol V, Fisher EM, Acevedo-Arozena A
  • Publication date:
    15/05/2018
  • Journal:
    The EMBO journal
  • Medium:
    Print-Electronic
  • Status:
    Published
  • Print ISSN:
    0261-4189
  • Language:
    eng
  • Addresses:
    UCL Institute of Neurology, and MRC Centre for Neuromuscular Disease, London, UK p.fratta@ucl.ac.uk aacevedo@ull.edu.es.
Abstract
causes an adult-onset neuromuscular phenotype accompanied by motor neuron loss and neurodegenerative changes. Furthermore, we have validated the splicing gain-of-function and skiptic exons in ALS patient-derived cells. Our findings provide a novel pathogenic mechanism and highlight how TDP-43 gain of function and loss of function affect RNA processing differently, suggesting they may act at different disease stages.
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Department of Neuromuscular Diseases
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