文章基本信息

标题：Functional analysis of SLC39A8 mutations and their implications for manganese deficiency and mitochondrial disorders
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作者：Eun-Kyung Choi ; Trang-Tiffany Nguyen ; Neil Gupta 等
期刊名称：Scientific Reports
电子版ISSN：2045-2322
出版年度：2018
卷号：8
期号：1
页码：3163
DOI：10.1038/s41598-018-21464-0
语种：English
出版社：Springer Nature
摘要：Mn levels and activity of Mn-dependent mitochondrial superoxide dismutase MnSOD, and in turn increased oxidative stress. The expression of wild-type hSLC39A8, but not the disease-associated mutants, promoted mitochondrial functions. Moreover, loss of function analyses further corroborate hSLC39A8's critical role in mediating Mn uptake and mitochondrial function. Our results provide a potential pathogenic mechanism of diseases that are associated with hSLC39A8 mutations.