Article
N488I mutation of the gamma2-subunit results in bidirectional changes in AMP-activated protein kinase activity.
Circulation research - 19 Aug 2005
Zou Liqun, Shen Mei, Arad Michael, He Huamei, Løfgren Bo, Ingwall Joanne S, Seidman Christine E, Seidman Jon G, Tian Rong
Abstract excerpt
Mutations in the human gene encoding the nucleotide-binding region in the gamma-subunit of AMP-activated protein kinase (AMPK) cause cardiomyopathy with preexcitation syndrome. Mutant AMPK showed reduced binding affinity to nucleotides in vitro raising the possibility that altered regulation of AMPK activity by AMP/ATP could contribute to the disease phenotype. In this study, we determined the sensitivity of AMPK...
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