期刊
EUROPEAN JOURNAL OF IMMUNOLOGY
卷 50, 期 7, 页码 1078-1080出版社
WILEY
DOI: 10.1002/eji.201948504
关键词
B cell development; cardiomyopathy; immunodeficiency; metabolism; myopathy
类别
资金
- Forderverein zugunsten krebskranker Kinder Krefeld e.V.
- Bundesministerium fur Bildung und Forschung (PID-NET) [BMBF 01GM1517B]
- Centre for Personalised Immunology - National Health and Medical Research Council of Australia, NHMRC
- The Australian National University, Canberra, Australia
- European Research Council (ERC) under the European Union's Horizon 2020 research and innovation programme [714226]
- St. Baldrick's Robert Arceci Innovations Award
- Deutsche Forschungsgemeinschaft
AMPK (adenosine monophosphate-activated protein kinase) is phosphorylated (AMPK-P) in response to low energy through allosteric activation by Adenosine mono- or diphosphate (AMP/ADP). Folliculin (FLCN) and the FLCN-interacting proteins 1 and 2 (FNIP1, 2) modulate AMPK. FNIP1 deficiency patients have a AMPK-P gain of function phenotype with hypertrophic cardiomyopathy, Wolff-Parkinson-White pre-excitation syndrome, myopathy of skeletal muscles and combined immunodeficiency. (+)
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