Concepedia

Identification and functional analysis of a novel PRKAG2 mutation responsible for Chinese PRKAG2 cardiac syndrome reveal an important role of non-CBS domains in regulating the AMPK pathway

Bili Zhang, Rong-liang Xu, Jing Zhang, Xianxian Zhao, Hong Wu, Liping Ma, Jianqiang Hu, Jianliang Zhang, Zhong Ye, Xing Zheng,

Journal of Cardiology · 2013 · 28 citations · 26 references

DOIFull text

Open access

Concepts

References

26

CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations

John W. Scott, Simon A. Hawley, Kevin A. Green et al. · Journal of Clinical Investigation · 2004 · 725 citations · Full text

, , +17

Identification of a Gene Responsible for Familial Wolff–Parkinson–White Syndrome

Michael H. Gollob, Anthony Tang, Tanya N. Gollob et al. · New England Journal of Medicine · 2001 · 674 citations · Full text

, , +13

Glycogen Storage Diseases Presenting as Hypertrophic Cardiomyopathy

Michael Arad, Barry J. Maron, Joshua Gorham et al. · New England Journal of Medicine · 2005 · 646 citations

, , +14

Characterization of AMP-activated protein kinase γ-subunit isoforms and their role in AMP binding

Peter Cheung, Ian P. Salt, Stephen Davies et al. · Biochemical Journal · 2000 · 617 citations · Full text

, , +13

Mutations in the gamma2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis

Edward Blair · Human Molecular Genetics · 2001 · 530 citations · Full text

, , +14