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A genetic model of substrate reduction therapy for mucopolysaccharidosis.
Lamanna WC, Lawrence R, Sarrazin S, Lameda-Diaz C, Gordts PL, Moremen KW, Esko JD. Lamanna WC, et al. Among authors: gordts pl. J Biol Chem. 2012 Oct 19;287(43):36283-90. doi: 10.1074/jbc.M112.403360. Epub 2012 Sep 5. J Biol Chem. 2012. PMID: 22952226 Free PMC article.
Brown fat activation reduces hypercholesterolaemia and protects from atherosclerosis development.
Berbée JF, Boon MR, Khedoe PP, Bartelt A, Schlein C, Worthmann A, Kooijman S, Hoeke G, Mol IM, John C, Jung C, Vazirpanah N, Brouwers LP, Gordts PL, Esko JD, Hiemstra PS, Havekes LM, Scheja L, Heeren J, Rensen PC. Berbée JF, et al. Among authors: gordts pl. Nat Commun. 2015 Mar 10;6:6356. doi: 10.1038/ncomms7356. Nat Commun. 2015. PMID: 25754609 Free PMC article.
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagıroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG. Akizu N, et al. Among authors: gordts pl. Nat Genet. 2015 May;47(5):528-34. doi: 10.1038/ng.3256. Epub 2015 Apr 6. Nat Genet. 2015. PMID: 25848753 Free PMC article.
69 results