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Spns1 is a lysophospholipid transporter mediating lysosomal phospholipid salvage.
He M, Kuk ACY, Ding M, Chin CF, Galam DLA, Nah JM, Tan BC, Yeo HL, Chua GL, Benke PI, Wenk MR, Ho L, Torta F, Silver DL. He M, et al. Among authors: silver dl. Proc Natl Acad Sci U S A. 2022 Oct 4;119(40):e2210353119. doi: 10.1073/pnas.2210353119. Epub 2022 Sep 26. Proc Natl Acad Sci U S A. 2022. PMID: 36161949 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.
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.
136 results