A novel, de novo mutation in the PRKAG2 gene: infantile-onset phenotype and the signaling pathway involved

PRKAG2 encodes the γ(2)-subunit isoform of 5′-AMP-activated protein kinase (AMPK), a heterotrimeric enzyme with major roles in the regulation of energy metabolism in response to cellular stress. Mutations in PRKAG2 have been implicated in a unique hypertrophic cardiomyopathy (HCM) characterized by c...

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Publicado no:Am J Physiol Heart Circ Physiol
Main Authors: Xu, Yanchun, Gray, A., Hardie, D. Grahame, Uzun, Alper, Shaw, Sunil, Padbury, James, Phornphutkul, Chanika, Tseng, Yi-Tang
Formato: Artigo
Idioma:Inglês
Publicado em: American Physiological Society 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5582920/
https://ncbi.nlm.nih.gov/pubmed/28550180
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajpheart.00813.2016
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