Abstract:
: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.
journal_name
Eur J Immunoljournal_title
European journal of immunologyauthors
Niehues T,Özgür TT,Bickes M,Waldmann R,Schöning J,Bräsen J,Hagel C,Ballmaier M,Klusmann JH,Niedermayer A,Pannicke U,Enders A,Dückers G,Siepermann K,Hempel J,Schwarz K,Viemann Ddoi
10.1002/eji.201948504subject
Has Abstractpub_date
2020-07-01 00:00:00pages
1078-1080issue
7eissn
0014-2980issn
1521-4141journal_volume
50pub_type
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