SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome

SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome

Schinzel-Giedion syndrome (SGS) is a fatal developmental syndrome characterized by severe intellectual and physical deficits due, at least in part, to early neurodegeneration. Here the authors introduce a human SGS model that displays disease-relevant phenotypes to demonstrate that neuronal death in...

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Autores principales: Federica Banfi, Alicia Rubio, Mattia Zaghi, Luca Massimino, Giulia Fagnocchi, Edoardo Bellini, Mirko Luoni, Cinzia Cancellieri, Anna Bagliani, Chiara Di Resta, Camilla Maffezzini, Angelo Ianielli, Maurizio Ferrari, Rocco Piazza, Luca Mologni, Vania Broccoli, Alessandro Sessa
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Science
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Acceso en línea:https://doaj.org/article/9f82d3e4675e4ed291494e6ac2e0dfe7
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