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.