PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72ALS/FTD neurons

Autor: Milioto, Carmelo, Carcolé, Mireia, Giblin, Ashling, Coneys, Rachel, Attrebi, Olivia, Ahmed, Mhoriam, Harris, Samuel S., Lee, Byung Il, Yang, Mengke, Ellingford, Robert A., Nirujogi, Raja S., Biggs, Daniel, Salomonsson, Sally, Zanovello, Matteo, de Oliveira, Paula, Katona, Eszter, Glaria, Idoia, Mikheenko, Alla, Geary, Bethany, Udine, Evan, Vaizoglu, Deniz, Anoar, Sharifah, Jotangiya, Khrisha, Crowley, Gerard, Smeeth, Demelza M., Adams, Mirjam L., Niccoli, Teresa, Rademakers, Rosa, van Blitterswijk, Marka, Devoy, Anny, Hong, Soyon, Partridge, Linda, Coyne, Alyssa N., Fratta, Pietro, Alessi, Dario R., Davies, Ben, Busche, Marc Aurel, Greensmith, Linda, Fisher, Elizabeth M. C., Isaacs, Adrian M.

Publikováno v: Nature Neuroscience; 20240101, Issue: Preprints p1-13, 13p

C9orf72 ALS/FTD dipeptide repeat protein levels are reduced by small molecules that inhibit PKA or enhance protein degradation.

Autor: Licata, Nausicaa V, Cristofani, Riccardo, Salomonsson, Sally, Wilson, Katherine M, Kempthorne, Liam, Vaizoglu, Deniz, D'Agostino, Vito G, Pollini, Daniele, Loffredo, Rosa, Pancher, Michael, Adami, Valentina, Bellosta, Paola, Ratti, Antonia, Viero, Gabriella, Quattrone, Alessandro, Isaacs, Adrian M, Poletti, Angelo, Provenzani, Alessandro

Publikováno v: EMBO Journal; 1/4/2022, Vol. 41 Issue 1, p1-23, 23p

PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons.

Autor: Milioto C; UK Dementia Research Institute, University College London, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK., Carcolé M; UK Dementia Research Institute, University College London, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK., Giblin A; UK Dementia Research Institute, University College London, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; UCL Institute of Healthy Ageing, Department of Genetics, Evolution and Environment, University College London, London, UK., Coneys R; UK Dementia Research Institute, University College London, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK., Attrebi O; UK Dementia Research Institute, University College London, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK., Ahmed M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Harris SS; UK Dementia Research Institute, University College London, London, UK., Lee BI; UK Dementia Research Institute, University College London, London, UK., Yang M; UK Dementia Research Institute, University College London, London, UK., Ellingford RA; UK Dementia Research Institute, University College London, London, UK., Nirujogi RS; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, UK., Biggs D; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Salomonsson S; UK Dementia Research Institute, University College London, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK., Zanovello M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., de Oliveira P; UK Dementia Research Institute, University College London, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK., Katona E; UK Dementia Research Institute, University College London, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK., Glaria I; UK Dementia Research Institute, University College London, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; Research Support Service, Institute of Agrobiotechnology, CSIC-Government of Navarra, Mutilva, Spain., Mikheenko A; UK Dementia Research Institute, University College London, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Geary B; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, UK., Udine E; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Vaizoglu D; UK Dementia Research Institute, University College London, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK., Anoar S; UCL Institute of Healthy Ageing, Department of Genetics, Evolution and Environment, University College London, London, UK., Jotangiya K; UK Dementia Research Institute, University College London, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK., Crowley G; UK Dementia Research Institute, University College London, London, UK., Smeeth DM; UK Dementia Research Institute, University College London, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK., Adams ML; UK Dementia Research Institute, University College London, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK., Niccoli T; UCL Institute of Healthy Ageing, Department of Genetics, Evolution and Environment, University College London, London, UK., Rademakers R; VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., van Blitterswijk M; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Devoy A; UK Dementia Research Institute, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Hong S; UK Dementia Research Institute, University College London, London, UK., Partridge L; UCL Institute of Healthy Ageing, Department of Genetics, Evolution and Environment, University College London, London, UK., Coyne AN; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Fratta P; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; UCL Queen Square Motor Neuron Disease Centre, UCL Queen Square Institute of Neurology, London, UK., Alessi DR; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, UK., Davies B; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; Francis Crick Institute, London, UK., Busche MA; UK Dementia Research Institute, University College London, London, UK., Greensmith L; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; UCL Queen Square Motor Neuron Disease Centre, UCL Queen Square Institute of Neurology, London, UK., Fisher EMC; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. elizabeth.fisher@ucl.ac.uk.; UCL Queen Square Motor Neuron Disease Centre, UCL Queen Square Institute of Neurology, London, UK. elizabeth.fisher@ucl.ac.uk., Isaacs AM; UK Dementia Research Institute, University College London, London, UK. a.isaacs@ucl.ac.uk.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK. a.isaacs@ucl.ac.uk.; UCL Queen Square Motor Neuron Disease Centre, UCL Queen Square Institute of Neurology, London, UK. a.isaacs@ucl.ac.uk.

Publikováno v: Nature neuroscience [Nat Neurosci] 2024 Apr; Vol. 27 (4), pp. 643-655. Date of Electronic Publication: 2024 Feb 29.