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

Tim NiehuesTuba Turul ÖzgürMarie BickesRebekka WaldmannJennifer SchöningJan BräsenChristian HagelMatthias BallmaierJan-Henning KlusmannAlexandra NiedermayerUlrich PannickeAnselm EndersGregor DückersKathrin SiepermannJulyia HempelKlaus SchwarzDorothee Viemann
Published in: European journal of immunology (2020)
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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