Article
Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder.
Nature communications - 10 Oct 2017
Huppke Peter, Weissbach Susann, Church Joseph A, Schnur Rhonda, Krusen Martina, Dreha-Kulaczewski Steffi, Kühn-Velten W Nikolaus, Wolf Annika, Huppke Brenda, Millan Francisca, Begtrup Amber, Almusafri Fatima, Thiele Holger, Altmüller Janine, Nürnberg Peter, Müller Michael, Gärtner Jutta
Abstract excerpt
Transcription factor NRF2, encoded by NFE2L2, is the master regulator of defense against stress in mammalian cells. Somatic mutations of NFE2L2 leading to NRF2 accumulation promote cell survival and drug resistance in cancer cells. Here we show that the same mutations as inborn de novo mutations cause an early onset multisystem disorder with failure to thrive, immunodeficiency and neurological symptoms. NRF2...
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