Ontology highlight
ABSTRACT:
SUBMITTER: Huppke P
PROVIDER: S-EPMC5635015 | biostudies-literature | 2017 Oct
REPOSITORIES: biostudies-literature
Huppke Peter P Weissbach Susann S Church Joseph A JA Schnur Rhonda R Krusen Martina M Dreha-Kulaczewski Steffi S Kühn-Velten W Nikolaus WN Wolf Annika A Huppke Brenda B Millan Francisca F Begtrup Amber A Almusafri Fatima F Thiele Holger H Altmüller Janine J Nürnberg Peter P Müller Michael M Gärtner Jutta J
Nature communications 20171010 1
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 accumulation leads to widespread misregulation of gene expression and an imbalance in cy ...[more]