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PepT1, PHT1 and PHT2 are members of the proton-coupled oligopeptide transporter family (POT-family or SLC15), and have a broad specificity for di- and tri-peptides (including carnosine and its methylated analogs)
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The mtDNA copy number was in general higher in the patients with lipid storage myopathy with a mean of 7701 mtDNA copies per 1 nuclear DNA copy (range 331412,178) compared to controls muscle (mean 4029
Compound heterozygous MTHFR gene variants (677T/1298C) characteristically exhibit hypomethylation (Ren et al., 2018)
Particularly, the intracellular GSH levels were still found to be reduced compared to healthy control individuals
