Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

The NRF2 transcription factor regulates the response to stress in mammalian cells. Here, the authors show that activating mutations in NRF2, commonly found in cancer cells, are found in four patients with a multisystem disorder characterized by immunodeficiency and neurological symptoms.

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Autores principales:	Peter Huppke, Susann Weissbach, Joseph A. Church, Rhonda Schnur, Martina Krusen, Steffi Dreha-Kulaczewski, W. Nikolaus Kühn-Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Holger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, Jutta Gärtner
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/afa5f18f07b548228b00ab048e187a66
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spelling	oai:doaj.org-article:afa5f18f07b548228b00ab048e187a662021-12-02T14:42:42ZActivating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder10.1038/s41467-017-00932-72041-1723https://doaj.org/article/afa5f18f07b548228b00ab048e187a662017-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-017-00932-7https://doaj.org/toc/2041-1723The NRF2 transcription factor regulates the response to stress in mammalian cells. Here, the authors show that activating mutations in NRF2, commonly found in cancer cells, are found in four patients with a multisystem disorder characterized by immunodeficiency and neurological symptoms.Peter HuppkeSusann WeissbachJoseph A. ChurchRhonda SchnurMartina KrusenSteffi Dreha-KulaczewskiW. Nikolaus Kühn-VeltenAnnika WolfBrenda HuppkeFrancisca MillanAmber BegtrupFatima AlmusafriHolger ThieleJanine AltmüllerPeter NürnbergMichael MüllerJutta GärtnerNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-10 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Peter Huppke Susann Weissbach Joseph A. Church Rhonda Schnur Martina Krusen Steffi Dreha-Kulaczewski W. Nikolaus Kühn-Velten Annika Wolf Brenda Huppke Francisca Millan Amber Begtrup Fatima Almusafri Holger Thiele Janine Altmüller Peter Nürnberg Michael Müller Jutta Gärtner Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder
description	The NRF2 transcription factor regulates the response to stress in mammalian cells. Here, the authors show that activating mutations in NRF2, commonly found in cancer cells, are found in four patients with a multisystem disorder characterized by immunodeficiency and neurological symptoms.
format	article
author	Peter Huppke Susann Weissbach Joseph A. Church Rhonda Schnur Martina Krusen Steffi Dreha-Kulaczewski W. Nikolaus Kühn-Velten Annika Wolf Brenda Huppke Francisca Millan Amber Begtrup Fatima Almusafri Holger Thiele Janine Altmüller Peter Nürnberg Michael Müller Jutta Gärtner
author_facet	Peter Huppke Susann Weissbach Joseph A. Church Rhonda Schnur Martina Krusen Steffi Dreha-Kulaczewski W. Nikolaus Kühn-Velten Annika Wolf Brenda Huppke Francisca Millan Amber Begtrup Fatima Almusafri Holger Thiele Janine Altmüller Peter Nürnberg Michael Müller Jutta Gärtner
author_sort	Peter Huppke
title	Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder
title_short	Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder
title_full	Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder
title_fullStr	Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder
title_full_unstemmed	Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder
title_sort	activating de novo mutations in nfe2l2 encoding nrf2 cause a multisystem disorder
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/afa5f18f07b548228b00ab048e187a66
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Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

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