| Budget Amount *help |
¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
Fiscal Year 2014: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Outline of Final Research Achievements |
In the present study, we carried out in vitro, in vivo and clinical investigations in order to clarify the pathology of riboflavin transporter (RFVT) deficiency. The data using the mice and culture cells showed that RFVT2 is expressed in the small intestine and mediates the uptake of riboflavin into intestinal epithelial cells. In addition, in the collaboration with foreign groups, it was suggested that the deficiency of RFVT2 as well as RFVT3 causes Brown-Vialetto-Van Laere syndrome (BVVLS). These results can help to clarify the pathology and develop the therapeutic strategy for BVVLS.
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