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• W3122024097 abstract "SLC16A12 is a recently identified creatine transporter of unknown physiological function. A heterozygous mutation in the human SLC16A12 gene causes juvenile cataracts and reduced plasma guanidinoacetate (GAA) levels with an increased fractional urinary excretion of GAA. Our study with transgenic SLC16A12-deficient rats reveals that SLC16A12 is critical for tubular reabsorption of creatine and GAA in the kidney. Our data furthermore indicate a dominant-negative mechanism underlying the phenotype of humans affected by the heterozygous SLC16A12 mutation." @default.
• W3122024097 created "2021-02-01" @default.
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• W3122024097 date "2021-03-01" @default.
• W3122024097 modified "2023-09-29" @default.
• W3122024097 title "Solute carrier SLC16A12 is critical for creatine and guanidinoacetate handling in the kidney" @default.
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• W3122024097 doi "https://doi.org/10.1152/ajprenal.00475.2020" @default.
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