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Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-22170-7
Abstract: Exosomes are extracellular vesicles involved in cell-to-cell communication. Previous large scale proteomics revealed that they contain SLC proteins. However, no data on the function of exosomal SLCs is available, so far. An SLC localized in…
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Keywords:
slc22a5;
carnitine transporter;
octn2;
carnitine ... See more keywords
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Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2210247119
Abstract: Significance Interpretation of missense variants in clinically important genes is a critical challenge. Loss-of-function (LOF) variants in SLC22A5 (OCTN2) cause Carnitine Transporter Deficiency (CTD), a rare but potentially lethal inborn error of metabolism. Motivated by…
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Keywords:
specific variant;
protein specific;
carnitine transporter;
transporter deficiency ... See more keywords