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Article

Disrupting of E79 and K138 interaction is responsible for human muscle creatine kinase deficiency diseases.

International journal of biological macromolecules - 1 Mar 2013

Wu Qing-Yun, Li Feng, Guo Hua-Yan, Cao Jiang, Chen Chong, Chen Wei, Zeng Ling-Yu, Li Zhen-Yu, Wang Xiao-Yun, Xu Kai-Lin

Abstract excerpt

Creatine kinase (CK) is a key enzyme for cellular energy metabolism, catalyzing the reversible phosphoryl transfer from phosphocreatine to ADP in vertebrates. Due to its important physiological functions, the acquired CK somatic mutations are closely correlated to diseases. In this study, the E79G point mutation was identified in two acute myocardial infarction patients with muscle CK activity deficiency. The...

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PMID: 23274523
DOI: 10.1016/j.ijbiomac.2012.12.034

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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