Article
Formate rescues neural tube defects caused by mutations in Slc25a32.
Proceedings of the National Academy of Sciences of the United States of America - 1 May 2018
Kim Jimi, Lei Yunping, Guo Jin, Kim Sung-Eun, Wlodarczyk Bogdan J, Cabrera Robert M, Lin Ying Linda, Nilsson Torbjorn K, Zhang Ting, Ren Aiguo, Wang Linlin, Yuan Zhengwei, Zheng Yu-Fang, Wang Hong-Yan, Finnell Richard H
Abstract excerpt
Periconceptional folic acid (FA) supplementation significantly reduces the prevalence of neural tube defects (NTDs). Unfortunately, some NTDs are FA resistant, and as such, NTDs remain a global public health concern. Previous studies have identified SLC25A32 as a mitochondrial folate transporter (MFT), which is capable of transferring tetrahydrofolate (THF) from cellular cytoplasm to the mitochondria in vitro....
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