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A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.
Alakbarzade V, Hameed A, Quek DQ, Chioza BA, Baple EL, Cazenave-Gassiot A, Nguyen LN, Wenk MR, Ahmad AQ, Sreekantan-Nair A, Weedon MN, Rich P, Patton MA, Warner TT, Silver DL, Crosby AH. Alakbarzade V, et al. Among authors: nguyen ln. Nat Genet. 2015 Jul;47(7):814-7. doi: 10.1038/ng.3313. Epub 2015 May 25. Nat Genet. 2015. PMID: 26005865
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
Guemez-Gamboa A, Nguyen LN, Yang H, Zaki MS, Kara M, Ben-Omran T, Akizu N, Rosti RO, Rosti B, Scott E, Schroth J, Copeland B, Vaux KK, Cazenave-Gassiot A, Quek DQ, Wong BH, Tan BC, Wenk MR, Gunel M, Gabriel S, Chi NC, Silver DL, Gleeson JG. Guemez-Gamboa A, et al. Among authors: nguyen ln. Nat Genet. 2015 Jul;47(7):809-13. doi: 10.1038/ng.3311. Epub 2015 May 25. Nat Genet. 2015. PMID: 26005868 Free PMC article.
Mfsd2a Is a Transporter for the Essential ω-3 Fatty Acid Docosahexaenoic Acid (DHA) in Eye and Is Important for Photoreceptor Cell Development.
Wong BH, Chan JP, Cazenave-Gassiot A, Poh RW, Foo JC, Galam DL, Ghosh S, Nguyen LN, Barathi VA, Yeo SW, Luu CD, Wenk MR, Silver DL. Wong BH, et al. Among authors: nguyen ln. J Biol Chem. 2016 May 13;291(20):10501-14. doi: 10.1074/jbc.M116.721340. Epub 2016 Mar 22. J Biol Chem. 2016. PMID: 27008858 Free PMC article.
Deletion of Mfsd2b impairs thrombotic functions of platelets.
Chandrakanthan M, Nguyen TQ, Hasan Z, Muralidharan S, Vu TM, Li AWL, Le UTN, Thi Thuy Ha H, Baik SH, Tan SH, Foo JC, Wenk MR, Cazenave-Gassiot A, Torta F, Ong WY, Chan MYY, Nguyen LN. Chandrakanthan M, et al. Among authors: nguyen tq, nguyen ln. Nat Commun. 2021 Apr 16;12(1):2286. doi: 10.1038/s41467-021-22642-x. Nat Commun. 2021. PMID: 33863882 Free PMC article.
270 results