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- W3175652020 abstract "The Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disorder believed to be due to mutations in the C20orf54 gene, which encodes the human riboflavin (RF) transporter −2 (hRFT-2). However, there is nothing known about the effect of these mutations on functionality of hRFT-2, a protein that is expressed in a variety of tissues with high expression in the intestine. We addressed this issue for a number of the mutants using the Caco-2 cells. Our results showed significant inhibition in RF uptake in Caco-2 cells expressing W17R, P28T, E36K, E71K, and R132W hRFT-2 mutants. The inhibition in RF transport in these mutants were not due to a decrease in transcription and/or translation of the hRFT-2, since mRNA and protein levels of the carrier were similar in mutants and wild-type hRFT-2. Confocal images of live Caco-2 cells transfected with hRFT-2 mutants (fused with GFP) showed the P28T, E36K, E71K, and R132W mutants were retained within the ER, while the W17R mutant was expressed at the cell membrane; the latter was further confirmed by cell surface biotinylation assay. These results show for the first time that BVVLS associated mutations in hRFT-2 affect the transporter functionality and that this effect is mediated via alterations in membrane targeting and/or activity of the transporter. [Supported by grants from the DVA and NIH (DK 58057 and DK 84094)]." @default.
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- W3175652020 date "2012-04-01" @default.
- W3175652020 modified "2023-10-14" @default.
- W3175652020 title "Effect of clinical mutations on functionality of the hRFT‐2 in intestinal epithelial cells" @default.
- W3175652020 doi "https://doi.org/10.1096/fasebj.26.1_supplement.885.24" @default.
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