Article
Abbreviated half-lives and impaired fuel utilization in carnitine palmitoyltransferase II variant fibroblasts.
PloS one - 1 Jan 2015
Yao Min, Cai Min, Yao Dengfu, Xu Xi, Yang Rongrong, Li Yuting, Zhang Yuanyuan, Kido Hiroshi, Yao Dengbing
Abstract excerpt
Carnitine palmitoyltransferase II (CPT II) deficiency is one of the most common causes of fatty acid oxidation metabolism disorders. However, the molecular mechanism between CPT2 gene polymorphisms and metabolic stress has not been fully clarified. We previously reported that a number of patients show a thermal instable phenotype of compound hetero/homozygous variants of CPT II. To understand the mechanism of the...
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