Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre‐excitation syndrome
Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre‐excitation syndrome
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与伴有心肌病和预激综合征的常染色体隐性免疫缺陷综合征相关的 FNIP1 基因突变
DOI：
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发表时间：
2020
影响因子：
5.4
通讯作者：
D. Viemann
中科院分区：
文献类型：
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作者：
T. Niehues;Tuba Turul Özgür;Marie S Bickes;R. Waldmann;Jennifer Schöning;J. Bräsen;C. Hagel;M. Ballmaier;J. Klusmann;A. Niedermayer;U. Pannicke;A. Enders;G. Dückers;K. Siepermann;Julyia Hempel;K. Schwarz;D. Viemann
AMPK(腺苷一磷酸活化蛋白激酶)是一种通过一磷酸腺苷或二磷酸(AMP/ADP)的变构激活，对低能量作出反应的磷酸化蛋白激酶。卵泡蛋白(Flcn)及其相互作用蛋白1和2(FNIP1，2)调节AMPK。FNIP1缺乏患者存在肥厚型心肌病、Wolff-Parkinson-White预激综合征、骨骼肌病和联合免疫缺陷的AMPK-P功能表型获得。
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.
影响因子：
32.4
作者：
Park H;Staehling K;Tsang M;Appleby MW;Brunkow ME;Margineantu D;Hockenbery DM;Habib T;Liggitt HD;Carlson G;Iritani BM
通讯作者：
Iritani BM