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Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.

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Title: Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
Authors: Fratta P; UCL Institute of Neurology, and MRC Centre for Neuromuscular Disease, London, UK p.fratta@ucl.ac.uk aacevedo@ull.edu.es., Sivakumar P; UCL Institute of Neurology, and MRC Centre for Neuromuscular Disease, London, UK., Humphrey J; UCL Institute of Neurology, and MRC Centre for Neuromuscular Disease, London, UK.; UCL Genetics Institute, London, UK., Lo K; UCL Genetics Institute, London, UK., Ricketts T; MRC Mammalian Genetics Unit, Harwell, UK., Oliveira H; MRC Mammalian Genetics Unit, Harwell, UK., Brito-Armas JM; Unidad de Investigación, Hospital Universitario de Canarias, Fundación Canaria de Investigación Sanitaria and Instituto de Tecnologías Biomédicas (CIBICAN), La Laguna, Spain., Kalmar B; UCL Institute of Neurology, and MRC Centre for Neuromuscular Disease, London, UK., Ule A; UCL Institute of Neurology, and MRC Centre for Neuromuscular Disease, London, UK., Yu Y; UCL Centre for Advanced Biomedical Imaging, University College London, London, UK., Birsa N; UCL Institute of Neurology, and MRC Centre for Neuromuscular Disease, London, UK., Bodo C; UCL Institute of Neurology, and MRC Centre for Neuromuscular Disease, London, UK., Collins T; UCL Institute of Neurology, and MRC Centre for Neuromuscular Disease, London, UK., Conicella AE; Graduate Program in Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI, USA., Mejia Maza A; UCL Institute of Neurology, and MRC Centre for Neuromuscular Disease, London, UK., Marrero-Gagliardi A; Unidad de Investigación, Hospital Universitario de Canarias, Fundación Canaria de Investigación Sanitaria and Instituto de Tecnologías Biomédicas (CIBICAN), La Laguna, Spain., Stewart M; MRC Mary Lyon Centre, Harwell, UK., Mianne J; MRC Mary Lyon Centre, Harwell, UK., Corrochano S; MRC Mammalian Genetics Unit, Harwell, UK., Emmett W; UCL Genetics Institute, London, UK., Codner G; MRC Mary Lyon Centre, Harwell, UK., Groves M; UCL Institute of Neurology, and MRC Centre for Neuromuscular Disease, London, UK., Fukumura R; Mutagenesis and Genomics Team, RIKEN BioResource Center, Tsukuba, Ibaraki, Japan., Gondo Y; Mutagenesis and Genomics Team, RIKEN BioResource Center, Tsukuba, Ibaraki, Japan., Lythgoe M; UCL Centre for Advanced Biomedical Imaging, University College London, London, UK., Pauws E; UCL Institute of Child Health, London, UK., Peskett E; UCL Institute of Child Health, London, UK., Stanier P; UCL Institute of Child Health, London, UK., Teboul L; MRC Mary Lyon Centre, Harwell, UK., Hallegger M; UCL Institute of Neurology and Francis Crick Institute, London, UK., Calvo A; Rita Levi Montalcini Department of Neuroscience, University of Turin, Turin, Italy., Chiò A; Rita Levi Montalcini Department of Neuroscience, University of Turin, Turin, Italy., Isaacs AM; UCL Institute of Neurology, and MRC Centre for Neuromuscular Disease, London, UK.; UK Dementia Research Institute at UCL, UCL Institute of Neurology, London, UK., Fawzi NL; Department of Molecular Pharmacology, Physiology & Biotechnology, Brown University, Providence, RI, USA., Wang E; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA., Housman DE; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA., Baralle F; International Center for Genomic Engineering and Biotechnology (ICGEB), Trieste, Italy., Greensmith L; UCL Institute of Neurology, and MRC Centre for Neuromuscular Disease, London, UK., Buratti E; International Center for Genomic Engineering and Biotechnology (ICGEB), Trieste, Italy., Plagnol V; UCL Genetics Institute, London, UK., Fisher EM; UCL Institute of Neurology, and MRC Centre for Neuromuscular Disease, London, UK., Acevedo-Arozena A; MRC Mammalian Genetics Unit, Harwell, UK p.fratta@ucl.ac.uk aacevedo@ull.edu.es.; Unidad de Investigación, Hospital Universitario de Canarias, Fundación Canaria de Investigación Sanitaria and Instituto de Tecnologías Biomédicas (CIBICAN), La Laguna, Spain.
Source: The EMBO journal [EMBO J] 2018 Jun 01; Vol. 37 (11). Date of Electronic Publication: 2018 May 15.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8208664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2075 (Electronic) Linking ISSN: 02614189 NLM ISO Abbreviation: EMBO J Subsets: MEDLINE
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  Data: Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
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Unidad de Investigación, Hospital Universitario de Canarias, Fundación Canaria de Investigación Sanitaria and Instituto de Tecnologías Biomédicas (CIBICAN), La Laguna, Spain.<br /><searchLink fieldCode="AU" term="%22Kalmar+B%22">Kalmar B</searchLink>; UCL Institute of Neurology, and MRC Centre for Neuromuscular Disease, London, UK.<br /><searchLink fieldCode="AU" term="%22Ule+A%22">Ule A</searchLink>; UCL Institute of Neurology, and MRC Centre for Neuromuscular Disease, London, UK.<br /><searchLink fieldCode="AU" term="%22Yu+Y%22">Yu Y</searchLink>; UCL Centre for Advanced Biomedical Imaging, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Birsa+N%22">Birsa N</searchLink>; UCL Institute of Neurology, and MRC Centre for Neuromuscular Disease, London, UK.<br /><searchLink fieldCode="AU" term="%22Bodo+C%22">Bodo C</searchLink>; UCL Institute of Neurology, and MRC Centre for Neuromuscular Disease, London, UK.<br /><searchLink fieldCode="AU" term="%22Collins+T%22">Collins T</searchLink>; 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