Article
SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome.
Nature communications - 30 Jun 2021
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
Abstract excerpt
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 multi-organ involvement with severe intellectual and physical deficits due, at least in part, to early...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.