TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43.

Autor: Godoy-Corchuelo JM; Neurological Disorders Group, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria Hospital Clínico San Carlos (IdiSSC), Madrid 28040, Spain., Ali Z; Neurological Disorders Group, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria Hospital Clínico San Carlos (IdiSSC), Madrid 28040, Spain; MRC Harwell Institute, Oxfordshire, UK., Brito Armas JM; Unidad de Investigación, Hospital Universitario de Canarias, ITB-ULL and CIBERNED, La Laguna, Spain., Martins-Bach AB; Wellcome Centre for Integrative Neuroimaging, University of Oxford, Oxford, UK., García-Toledo I; Neurological Disorders Group, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria Hospital Clínico San Carlos (IdiSSC), Madrid 28040, Spain., Fernández-Beltrán LC; Neurological Disorders Group, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria Hospital Clínico San Carlos (IdiSSC), Madrid 28040, Spain; Department of Medicine, Universidad Complutense de Madrid, Madrid, Spain., López-Carbonero JI; Neurological Disorders Group, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria Hospital Clínico San Carlos (IdiSSC), Madrid 28040, Spain., Bascuñana P; Brain Mapping Group, Hospital Clínico San Carlos, IdISSC, Madrid, Spain., Spring S; Mouse Imaging Centre, The Hospital for Sick Children, Toronto, ON, Canada., Jimenez-Coca I; Neurological Disorders Group, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria Hospital Clínico San Carlos (IdiSSC), Madrid 28040, Spain., Muñoz de Bustillo Alfaro RA; Unidad de Investigación, Hospital Universitario de Canarias, ITB-ULL and CIBERNED, La Laguna, Spain., Sánchez-Barrena MJ; Department of Crystallography and Structural Biology, Institute of Physical Chemistry 'Blas Cabrera', CSIC, Madrid, Spain., Nair RR; MRC Harwell Institute, Oxfordshire, UK; Nucleic Acid Therapy Accelerator (NATA), Harwell Campus, Oxfordshire, UK., Nieman BJ; Mouse Imaging Centre, The Hospital for Sick Children, Toronto, ON, Canada., Lerch JP; Wellcome Centre for Integrative Neuroimaging, University of Oxford, Oxford, UK., Miller KL; Wellcome Centre for Integrative Neuroimaging, University of Oxford, Oxford, UK., Ozdinler HP; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Fisher EMC; Department of Neuromuscular Diseases, and UCL Queen Square Motor Neuron Disease Centre, UCL, Institute of Neurology, London, UK., Cunningham TJ; MRC Harwell Institute, Oxfordshire, UK; MRC Prion Unit at UCL, UCL Institute of Prion Diseases, London, UK., Acevedo-Arozena A; Unidad de Investigación, Hospital Universitario de Canarias, ITB-ULL and CIBERNED, La Laguna, Spain. Electronic address: aacevedo@ull.edu.es., Corrochano S; Neurological Disorders Group, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria Hospital Clínico San Carlos (IdiSSC), Madrid 28040, Spain; MRC Harwell Institute, Oxfordshire, UK. Electronic address: silvia.corrochano@salud.madrid.org.

Publikováno v: Neurobiology of disease [Neurobiol Dis] 2024 Apr; Vol. 193, pp. 106437. Date of Electronic Publication: 2024 Feb 15.

Erratum: Generation and analysis of innovative genomically humanized knockin SOD1 , TARDBP (TDP-43), and FUS mouse models.

Autor: Devoy A, Price G, De Giorgio F, Bunton-Stasyshyn R, Thompson D, Gasco S, Allan A, Codner GF, Nair RR, Tibbit C, McLeod R, Ali Z, Noda J, Marrero-Gagliardi A, Brito-Armas JM, Williams C, Öztürk MM, Simon M, O'Neill E, Bryce-Smith S, Harrison J, Atkins G, Corrochano S, Stewart M, Gilthorpe JD, Teboul L, Acevedo-Arozena A, Fisher EMC, Cunningham TJ

Publikováno v: IScience [iScience] 2022 Mar 12; Vol. 25 (4), pp. 103999. Date of Electronic Publication: 2022 Mar 12 (Print Publication: 2022).

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

Autor: 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.

Publikováno v: The EMBO journal [EMBO J] 2018 Jun 01; Vol. 37 (11). Date of Electronic Publication: 2018 May 15.

Choroid plexus dysfunction impairs beta-amyloid clearance in a triple transgenic mouse model of Alzheimer's disease.

Autor: González-Marrero I; Department of Human Anatomy, School of Medicine, University of La Laguna Tenerife, Spain., Giménez-Llort L; Institute of Neurosciences and Department of Psychiatry and Forensic Medicine, Autonomous University of Barcelona Barcelona, Spain., Johanson CE; Department of Neurosurgery, Alpert Medical School at Brown University Providence, Rhode Island, USA., Carmona-Calero EM; Department of Human Anatomy, School of Medicine, University of La Laguna Tenerife, Spain., Castañeyra-Ruiz L; Department of Human Anatomy, School of Medicine, University of La Laguna Tenerife, Spain., Brito-Armas JM; Department of Physiology, School of Medicine, University of La Laguna Tenerife, Spain., Castañeyra-Perdomo A; Department of Human Anatomy, School of Medicine, University of La Laguna Tenerife, Spain., Castro-Fuentes R; Department of Physiology, School of Medicine, University of La Laguna Tenerife, Spain.

Publikováno v: Frontiers in cellular neuroscience [Front Cell Neurosci] 2015 Feb 06; Vol. 9, pp. 17. Date of Electronic Publication: 2015 Feb 06 (Print Publication: 2015).

[Non invasive gene therapy in neurological diseases].

Autor: Brito-Armas JM; Universidad de La Laguna, 38205 La Laguna, Espana., Castro-Hernandez J, Rodriguez-Diaz M, Castro-Fuentes R

Publikováno v: Revista de neurologia [Rev Neurol] 2011 May 16; Vol. 52 (10), pp. 603-17.