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

doi:10.1002/eji.201948504

Article

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

European journal of immunology - 1 Jul 2020

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

Abstract excerpt

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...

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

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