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- W3206932390 endingPage "108023" @default.
- W3206932390 startingPage "108023" @default.
- W3206932390 abstract "Riboflavin (vitamin B2) is essential for cellular growth and function. It is enzymatically converted to flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), which participate in the metabolic oxidation-reduction reactions of carbohydrates, amino acids, and lipids. Human riboflavin transporters RFVT1, RFVT2, and RFVT3 have been identified and characterized since 2008. They are highly specific transporters of riboflavin. RFVT3 has functional characteristics different from those of RFVT1 and RFVT2. RFVT3 contributes to absorption in the small intestine, reabsorption in the kidney, and transport to the fetus in the placenta, while RFVT2 mediates the tissue distribution of riboflavin from the blood. Several mutations in the SLC52A2 gene encoding RFVT2 and the SLC52A3 gene encoding RFVT3 were found in patients with a rare neurological disorder known as Brown-Vialetto-Van Laere syndrome. These patients commonly present with bulbar palsy, hearing loss, muscle weakness, and respiratory symptoms in infancy or later in childhood. A decrease in plasma riboflavin levels has been observed in several cases. Recent studies on knockout mice and patient-derived cells have advanced the understanding of these mechanisms. Here, we summarize novel findings on RFVT1-3 and their genetic diseases and discuss their potential as therapeutic drugs." @default.
- W3206932390 created "2021-10-25" @default.
- W3206932390 creator A5001416986 @default.
- W3206932390 creator A5028127032 @default.
- W3206932390 date "2022-05-01" @default.
- W3206932390 modified "2023-09-24" @default.
- W3206932390 title "Recent advances in riboflavin transporter RFVT and its genetic disease" @default.
- W3206932390 cites W1015663572 @default.
- W3206932390 cites W1483487281 @default.
- W3206932390 cites W1541948403 @default.
- W3206932390 cites W1594586402 @default.
- W3206932390 cites W1816058075 @default.
- W3206932390 cites W1905930372 @default.
- W3206932390 cites W1967003349 @default.
- W3206932390 cites W1967619907 @default.
- W3206932390 cites W1974721900 @default.
- W3206932390 cites W1977599449 @default.
- W3206932390 cites W1985004415 @default.
- W3206932390 cites W1985482010 @default.
- W3206932390 cites W1997444121 @default.
- W3206932390 cites W2001371823 @default.
- W3206932390 cites W2001963630 @default.
- W3206932390 cites W2002448726 @default.
- W3206932390 cites W2003661991 @default.
- W3206932390 cites W2013331789 @default.
- W3206932390 cites W2014195253 @default.
- W3206932390 cites W2019054547 @default.
- W3206932390 cites W2019231643 @default.
- W3206932390 cites W2021839448 @default.
- W3206932390 cites W2022414353 @default.
- W3206932390 cites W2025405352 @default.
- W3206932390 cites W2033686101 @default.
- W3206932390 cites W2041349268 @default.
- W3206932390 cites W2042155923 @default.
- W3206932390 cites W2046764404 @default.
- W3206932390 cites W2047758457 @default.
- W3206932390 cites W2049806938 @default.
- W3206932390 cites W2054407881 @default.
- W3206932390 cites W2055435177 @default.
- W3206932390 cites W2081218766 @default.
- W3206932390 cites W2084554672 @default.
- W3206932390 cites W2088645009 @default.
- W3206932390 cites W2105194626 @default.
- W3206932390 cites W2107033506 @default.
- W3206932390 cites W2107719217 @default.
- W3206932390 cites W2112594551 @default.
- W3206932390 cites W2116429899 @default.
- W3206932390 cites W2125291615 @default.
- W3206932390 cites W2134841542 @default.
- W3206932390 cites W2137501869 @default.
- W3206932390 cites W2141039290 @default.
- W3206932390 cites W2153126658 @default.
- W3206932390 cites W2158145413 @default.
- W3206932390 cites W2158607076 @default.
- W3206932390 cites W2159581577 @default.
- W3206932390 cites W2161152109 @default.
- W3206932390 cites W2174811221 @default.
- W3206932390 cites W2213390996 @default.
- W3206932390 cites W2233092840 @default.
- W3206932390 cites W2270315141 @default.
- W3206932390 cites W2276713244 @default.
- W3206932390 cites W2300307217 @default.
- W3206932390 cites W2311263714 @default.
- W3206932390 cites W2328071833 @default.
- W3206932390 cites W2405898891 @default.
- W3206932390 cites W2411989351 @default.
- W3206932390 cites W2418850013 @default.
- W3206932390 cites W2471073049 @default.
- W3206932390 cites W2508667138 @default.
- W3206932390 cites W2518289284 @default.
- W3206932390 cites W2529183232 @default.
- W3206932390 cites W2530154941 @default.
- W3206932390 cites W2535718361 @default.
- W3206932390 cites W2582342151 @default.
- W3206932390 cites W2604215020 @default.
- W3206932390 cites W2604562422 @default.
- W3206932390 cites W2605298991 @default.
- W3206932390 cites W2617017970 @default.
- W3206932390 cites W2620027211 @default.
- W3206932390 cites W2735689337 @default.
- W3206932390 cites W2749090504 @default.
- W3206932390 cites W2753943132 @default.
- W3206932390 cites W2759012557 @default.
- W3206932390 cites W2766268918 @default.
- W3206932390 cites W2766347843 @default.
- W3206932390 cites W2768293277 @default.
- W3206932390 cites W2775693323 @default.
- W3206932390 cites W2784938977 @default.
- W3206932390 cites W2789326826 @default.
- W3206932390 cites W2790817975 @default.
- W3206932390 cites W2888909844 @default.
- W3206932390 cites W2894849273 @default.
- W3206932390 cites W2896090718 @default.
- W3206932390 cites W2896635171 @default.
- W3206932390 cites W2897735856 @default.
- W3206932390 cites W2912338091 @default.
- W3206932390 cites W2916711801 @default.
- W3206932390 cites W2923599836 @default.