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Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome

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

Description

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.

CollectionsANU Research Publications
Date published: 2020
Type: Journal article
URI: http://hdl.handle.net/1885/219272
Source: European journal of immunology
DOI: 10.1002/eji.201948504

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