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Page 1
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, Al-Zuhaibi S, Al-Azri F, Al-Rashdi F, Cazenave-Gassiot A, Wenk MR, Al-Salmi F, Patton MA, Silver DL, Baple EL, McMaster CR, Crosby AH. Ahmed MY, et al. Among authors: silver dl. Brain. 2017 Mar 1;140(3):547-554. doi: 10.1093/brain/aww318. Brain. 2017. PMID: 28052917 Free PMC article.
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: silver dl. 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: silver dl. 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: silver dl. 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.
The lysolipid transporter Mfsd2a regulates lipogenesis in the developing brain.
Chan JP, Wong BH, Chin CF, Galam DLA, Foo JC, Wong LC, Ghosh S, Wenk MR, Cazenave-Gassiot A, Silver DL. Chan JP, et al. Among authors: silver dl. PLoS Biol. 2018 Aug 3;16(8):e2006443. doi: 10.1371/journal.pbio.2006443. eCollection 2018 Aug. PLoS Biol. 2018. PMID: 30074985 Free PMC article.
The Lysophosphatidylcholine Transporter MFSD2A Is Essential for CD8+ Memory T Cell Maintenance and Secondary Response to Infection.
Piccirillo AR, Hyzny EJ, Beppu LY, Menk AV, Wallace CT, Hawse WF, Buechel HM, Wong BH, Foo JC, Cazenave-Gassiot A, Wenk MR, Delgoffe GM, Watkins SC, Silver DL, D'Cruz LM. Piccirillo AR, et al. Among authors: silver dl. J Immunol. 2019 Jul 1;203(1):117-126. doi: 10.4049/jimmunol.1801585. Epub 2019 May 24. J Immunol. 2019. PMID: 31127034 Free PMC article.
138 results