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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA. Gehin C, et al. Among authors: lone ma. J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. J Clin Invest. 2023. PMID: 36976648 Free PMC article.
1-Deoxysphingolipids.
Lone MA, Santos T, Alecu I, Silva LC, Hornemann T. Lone MA, et al. Biochim Biophys Acta Mol Cell Biol Lipids. 2019 Apr;1864(4):512-521. doi: 10.1016/j.bbalip.2018.12.013. Epub 2019 Jan 6. Biochim Biophys Acta Mol Cell Biol Lipids. 2019. PMID: 30625374 Review.
SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS.
Lone MA, Zeng S, Bourquin F, Wang M, Huang S, Lin Z, Tang B, Zhang R, Hornemann T. Lone MA, et al. Biochim Biophys Acta Mol Cell Biol Lipids. 2023 Sep;1868(9):159359. doi: 10.1016/j.bbalip.2023.159359. Epub 2023 Jun 20. Biochim Biophys Acta Mol Cell Biol Lipids. 2023. PMID: 37348646
57 results