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

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
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Science
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Acceso en línea:https://doaj.org/article/afa5f18f07b548228b00ab048e187a66
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