TDP-43 mutations increase HNRNP A1-7B through gain of splicing function.

Autor: Sivakumar P; Department of Neuromuscular Diseases, Institute of Neurology, Queen Square, University College London, UK., De Giorgio F; Department of Neuromuscular Diseases, Institute of Neurology, Queen Square, University College London, UK., Ule AM; Department of Neuromuscular Diseases, Institute of Neurology, Queen Square, University College London, UK., Neeves J; Department of Neuromuscular Diseases, Institute of Neurology, Queen Square, University College London, UK., Nair RR; Mammalian Genetics Unit, MRC Harwell Institute, Oxford, UK., Bentham M; Department of Neuromuscular Diseases, Institute of Neurology, Queen Square, University College London, UK., Birsa N; Department of Neuromuscular Diseases, Institute of Neurology, Queen Square, University College London, UK., Humphrey J; Department of Neuromuscular Diseases, Institute of Neurology, Queen Square, University College London, UK.; University College London Genetics Institute, Gower Street, London, UK., Plagnol V; University College London Genetics Institute, Gower Street, London, UK., Acevedo-Arozena A; Unidad de Investigación, Hospital Universitario de Canarias, Fundación Canaria de Investigación Sanitaria and Instituto de Tecnologías Biomédicas, La Laguna, Spain., Cunningham TJ; Mammalian Genetics Unit, MRC Harwell Institute, Oxford, UK., Fisher EMC; Department of Neuromuscular Diseases, Institute of Neurology, Queen Square, University College London, UK., Fratta P; Department of Neuromuscular Diseases, Institute of Neurology, Queen Square, University College London, UK.
Jazyk: angličtina
Zdroj: Brain : a journal of neurology [Brain] 2018 Dec 01; Vol. 141 (12), pp. e83.
DOI: 10.1093/brain/awy260
Databáze: MEDLINE