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
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/9f82d3e4675e4ed291494e6ac2e0dfe7
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spelling	oai:doaj.org-article:9f82d3e4675e4ed291494e6ac2e0dfe72021-12-02T14:34:05ZSETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome10.1038/s41467-021-24391-32041-1723https://doaj.org/article/9f82d3e4675e4ed291494e6ac2e0dfe72021-06-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-24391-3https://doaj.org/toc/2041-1723Schinzel-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 SGS originates from developmental alterations mainly in safeguarding cell identity and homeostasis.Federica BanfiAlicia RubioMattia ZaghiLuca MassiminoGiulia FagnocchiEdoardo BelliniMirko LuoniCinzia CancellieriAnna BaglianiChiara Di RestaCamilla MaffezziniAngelo IanielliMaurizio FerrariRocco PiazzaLuca MologniVania BroccoliAlessandro SessaNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-21 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome
description	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 SGS originates from developmental alterations mainly in safeguarding cell identity and homeostasis.
format	article
author	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
author_facet	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
author_sort	Federica Banfi
title	SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome
title_short	SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome
title_full	SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome
title_fullStr	SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome
title_full_unstemmed	SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome
title_sort	setbp1 accumulation induces p53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in schinzel-giedion syndrome
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/9f82d3e4675e4ed291494e6ac2e0dfe7
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SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome

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