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Regulation of Mitochondrial Glutathione Redox Status and Protein Glutathionylation by Respiratory Substrates* - Journal of Biological Chemistry

[DOI] [PMC free article] [PubMed] [Google Scholar] 3.Liu T., Song C., Zhang Y., Siyin S.T., Zhang Q., Song M., Cao L., Shi H

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SLC22A5 mutations impair OCTN2 function, causing primary carnitine deficiency (PCD) (15–17), an autosomal recessive disorder characterized by skeletal myopathy, progressive cardiomyopathy, hypoglycemia, and hyperammonemia

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