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XPOT Deficiency causes a human disorder through impaired tRNA nuclear export

2026-02-04 genetic and genomic medicine Title + abstract only
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BackgroundThe transport of transfer RNAs (tRNAs) from the nucleus to the cytoplasm is a crucial step in the regulation of gene expression and protein synthesis. This process is mediated by specialized export molecules, among which XPOT (Exportin-t, XPO3) plays a central role by recognizing and transporting mature tRNAs through the nuclear pore complex. XPOT is not essential in RNA trafficking in the simple organisms, however the potential impact of XPOT deficiency in human health remains unresol...

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