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The relationship between common pathogenic variants and the phenotypic syndromes of mitochondrial diseases is summarized in Table 2

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After the plasma membrane carrier-mediated GSH release from the cell, GSH becomes accessible to the active site of - glutamyl transpeptidase, which catalyzes the breakdown of the GSH - glutamyl bond forming two fractions: The -glutamyl fraction and the cysteinyl-glycine by transferring the -glutamyl fraction to an amino acid acceptor, forming -glutamyl-amino acid

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