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Simone Barattucci on Muck Rack

Simone Barattucci

As seen in: Nature
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Articles

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
Abstract Motor neuron hyperexcitability is a broadly observed yet poorly understood feature of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Nuclear depletion and cytoplasmic aggregation of the RNA splicing protein TAR DNA-binding protein 43 (TDP-43) are observed in most ALS and FTD patients. Here we show that TDP-43 dysfunction causes mis-splicing of KCNQ2, which encodes a voltage-gated potassium channel (Kv7.2) that regulates neuronal excitability.
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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
Abstract Nuclear depletion and cytoplasmic aggregation of the RNA-binding protein TDP-43 are cellular hallmarks of amyotrophic lateral sclerosis (ALS). TDP-43 nuclear loss causes de-repression of cryptic exons, yet cryptic alternative polyadenylation (APA) events have been largely overlooked.
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