Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre‐excitation syndrome. Issue 7 (20th April 2020)

• Record Type: Journal Article
• Authors: Niehues, Tim; Özgür, Tuba Turul; Bickes, Marie; Waldmann, Rebekka; Schöning, Jennifer; Bräsen, Jan; Hagel, Christian; Ballmaier, Matthias; Klusmann, Jan‐Henning; Niedermayer, Alexandra; Pannicke, Ulrich; Enders, Anselm; Dückers, Gregor; Siepermann, Kathrin; Hempel, Julyia; Schwarz, Klaus; Viemann, Dorothee
• Is Part Of: European journal of immunology. Volume 50:Issue 7(2020)
• Page Start: 1078
• Page End: 1080
• Publication Date: 2020-04-20
• Subjects: B cell development -- cardiomyopathy -- immunodeficiency -- metabolism -- myopathy; Immunology -- Periodicals; 616.079
• DOI: 10.1002/eji.201948504
• Languages: English
• ISSNs: 0014-2980

Abstract

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.