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

Abstract:

: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.

journal_name

Eur J Immunol

authors

Niehues T,Özgür TT,Bickes M,Waldmann R,Schöning J,Bräsen J,Hagel C,Ballmaier M,Klusmann JH,Niedermayer A,Pannicke U,Enders A,Dückers G,Siepermann K,Hempel J,Schwarz K,Viemann D

doi

10.1002/eji.201948504

subject

Has Abstract

pub_date

2020-07-01 00:00:00

pages

1078-1080

issue

7

eissn

0014-2980

issn

1521-4141

journal_volume

50

pub_type

信件
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