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 ViemannPublished 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.
Keyphrases
- protein kinase
- hypertrophic cardiomyopathy
- end stage renal disease
- left ventricular
- newly diagnosed
- intellectual disability
- ejection fraction
- chronic kidney disease
- heart failure
- skeletal muscle
- prognostic factors
- case report
- genome wide
- muscular dystrophy
- energy transfer
- patient reported outcomes
- patient reported
- transcription factor