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

The investigation of genetic forms of juvenile neurodegeneration could shed light on the causative mechanisms of neuronal loss. Schinzel-Giedion syndrome (SGS) is a fatal developmental syndrome caused by mutations in the SETBP1 gene, inducing the accumulation of its protein product. SGS features mul...

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izdano v:Nat Commun
Main Authors: Banfi, Federica, Rubio, Alicia, Zaghi, Mattia, Massimino, Luca, Fagnocchi, Giulia, Bellini, Edoardo, Luoni, Mirko, Cancellieri, Cinzia, Bagliani, Anna, Di Resta, Chiara, Maffezzini, Camilla, Ianielli, Angelo, Ferrari, Maurizio, Piazza, Rocco, Mologni, Luca, Broccoli, Vania, Sessa, Alessandro
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group UK 2021
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC8245514/
https://ncbi.nlm.nih.gov/pubmed/34193871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-021-24391-3
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