期刊
NATURE COMMUNICATIONS
卷 8, 期 -, 页码 -出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/s41467-017-00932-7
关键词
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资金
- German Research Foundation (DFG) [Ga354/14-1]
- Deutsche Forschungsgemeinschaft (DFG)
- Jeffrey Modell Foundation
- Foundation for Primary Immunodeficiencies
- Gottingen University
- Cluster of Excellence
- DFG Research Center Nanoscale Microscopy and Molecular Physiology of the Brain (CNMPB)
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 cytosolic redox balance. The unique combination of white matter lesions, hypohomocysteinaemia and increased G-6-P-dehydrogenase activity will facilitate early diagnosis and therapeutic intervention of this novel disorder.
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