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Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
Haack TB, Makowski C, Yao Y, Graf E, Hempel M, Wieland T, Tauer U, Ahting U, Mayr JA, Freisinger P, Yoshimatsu H, Inui K, Strom TM, Meitinger T, Yonezawa A, Prokisch H. Haack TB, et al. Among authors: yonezawa a. J Inherit Metab Dis. 2012 Nov;35(6):943-8. doi: 10.1007/s10545-012-9513-y. Epub 2012 Aug 3. J Inherit Metab Dis. 2012. PMID: 22864630 Free PMC article.
Functional involvement of RFVT3/SLC52A3 in intestinal riboflavin absorption.
Yoshimatsu H, Yonezawa A, Yao Y, Sugano K, Nakagawa S, Omura T, Matsubara K. Yoshimatsu H, et al. Among authors: yonezawa a. Am J Physiol Gastrointest Liver Physiol. 2014 Jan;306(2):G102-10. doi: 10.1152/ajpgi.00349.2013. Epub 2013 Nov 21. Am J Physiol Gastrointest Liver Physiol. 2014. PMID: 24264046 Free article.
Complete Deletion of Slc52a2 Causes Embryonic Lethality in Mice.
Jin C, Matsui Y, Yonezawa A, Imai S, Ogihara T, Itohara K, Nakagawa S, Nakagawa T, Matsubara K. Jin C, et al. Among authors: yonezawa a. Biol Pharm Bull. 2021;44(2):283-286. doi: 10.1248/bpb.b20-00751. Biol Pharm Bull. 2021. PMID: 33518683 Free article.
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H. Foley AR, et al. Among authors: yonezawa a. Brain. 2014 Jan;137(Pt 1):44-56. doi: 10.1093/brain/awt315. Epub 2013 Nov 19. Brain. 2014. PMID: 24253200 Free PMC article.
281 results