Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome
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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, Rebecca; 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.
In: EUR J IMMUNOL, Vol. 50, No. 7, 07.2020, p. 1078-1080.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
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TY - JOUR
T1 - Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome
AU - Niehues, Tim
AU - Özgür, Tuba Turul
AU - Bickes, Marie
AU - Waldmann, Rebecca
AU - Schöning, Jennifer
AU - Bräsen, Jan
AU - Hagel, Christian
AU - Ballmaier, Matthias
AU - Klusmann, Jan-Henning
AU - Niedermayer, Alexandra
AU - Pannicke, Ulrich
AU - Enders, Anselm
AU - Dückers, Gregor
AU - Siepermann, Kathrin
AU - Hempel, Julyia
AU - Schwarz, Klaus
AU - Viemann, Dorothee
N1 - © 2020 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.
PY - 2020/7
Y1 - 2020/7
N2 - 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.
AB - 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.
KW - Cardiomyopathies/genetics
KW - Carrier Proteins/genetics
KW - Female
KW - Genes, Recessive
KW - Humans
KW - Immunologic Deficiency Syndromes/genetics
KW - Male
KW - Mutation
KW - Pre-Excitation Syndromes/genetics
U2 - 10.1002/eji.201948504
DO - 10.1002/eji.201948504
M3 - Other (editorial matter etc.)
C2 - 32181500
VL - 50
SP - 1078
EP - 1080
JO - EUR J IMMUNOL
JF - EUR J IMMUNOL
SN - 0014-2980
IS - 7
ER -