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Simone Barattucci

As seen in: Nature
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Articles

UNC13A splice correction rescues synaptic dysfunction induced by TDP-43 loss

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By Matthew J. Keuss, Peter Harley, Eugeni Ryadnov, Rachel Jackson, Moritz Boll, Matteo Zanovello, Oscar G. Wilkins, Simone Barattucci, Dragana Ilic, Rebecca Simkin, Alexander J. Cammack, Puja R Mehta, Maria Kowald, Ryan D. Morrie, Georgiana Miller, Márcio Oliveira, Graham Duddy, Sophie Wood, Joanna E. Parkes, Aparna Sinha, Andrés F. Correa-Sánchez, Adrian M. Isaacs, Peter Oliver, Fursham M. Hamid, Eric Green, Elizabeth Fisher, Benjamin Davies, Giampietro Schiavo, Mala Shah, Noa Lipstein, Juan Burrone, Pietro Fratta, Max Z. Y. J. Chien
| Nature Verified
Abstract TDP-43 nuclear depletion is a defining pathological feature of amyotrophic lateral sclerosis and frontotemporal dementia that induces widespread cryptic splicing defects in hundreds of transcripts1,2,3,4,5,6,7,8. Despite this, whether TDP-43 loss affects synaptic function has remained unclear. Here we show that TDP-43 loss induces a predegenerative state in which neurons remain structurally intact but suffer a substantial breakdown in synaptic communication.
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TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD - Nature Neuroscience

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By Brian Joseph, Kelly Marshall, Peter Harley, Wanhao Chi, Mercedes Prudencio, Dina Simkin, Tzu-Ting Kao, Matthew J. Keuss, Simone Barattucci, Puja R Mehta, Jonathan Lee, Marcel F. Leyton-Jaimes, Eleonora Aronica, Brian J. Wainger, Dennis W. Dickson, Chaolin Zhang, Hynek Wichterle, Jonathan Watts, Pietro Fratta, Kevin Eggan
| Nature Verified
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TDP-43 loss induces cryptic polyadenylation in ALS/FTD - Nature Neuroscience

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By Sam Bryce-Smith, Puja R Mehta, Francesca Mattedi, Yue Qi, Nicol Birsa, Towfique Raj, Jack Humphrey, Matthew J. Keuss, Michael Ward, Maria Secrier, Simone Barattucci
| Nature Verified
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