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Regulation of purine metabolism connects KCTD13 to a metabolic disorder with autistic features.
Madison JM, Duong K, Vieux EF, Udeshi ND, Iqbal S, Requadt E, Fereshetian S, Lewis MC, Gomes AS, Pierce KA, Platt RJ, Zhang F, Campbell AJ, Lal D, Wagner FF, Clish CB, Carr SA, Sheng M, Scolnick EM, Cottrell JR. Madison JM, et al. Among authors: cottrell jr. iScience. 2020 Dec 11;24(1):101935. doi: 10.1016/j.isci.2020.101935. eCollection 2021 Jan 22. iScience. 2020. PMID: 33409479 Free PMC article.
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants.
Iqbal S, Pérez-Palma E, Jespersen JB, May P, Hoksza D, Heyne HO, Ahmed SS, Rifat ZT, Rahman MS, Lage K, Palotie A, Cottrell JR, Wagner FF, Daly MJ, Campbell AJ, Lal D. Iqbal S, et al. Among authors: cottrell jr. Proc Natl Acad Sci U S A. 2020 Nov 10;117(45):28201-28211. doi: 10.1073/pnas.2002660117. Epub 2020 Oct 26. Proc Natl Acad Sci U S A. 2020. PMID: 33106425 Free PMC article.
Selective inhibition of glycogen synthase kinase 3α corrects pathophysiology in a mouse model of fragile X syndrome.
McCamphill PK, Stoppel LJ, Senter RK, Lewis MC, Heynen AJ, Stoppel DC, Sridhar V, Collins KA, Shi X, Pan JQ, Madison J, Cottrell JR, Huber KM, Scolnick EM, Holson EB, Wagner FF, Bear MF. McCamphill PK, et al. Among authors: cottrell jr. Sci Transl Med. 2020 May 20;12(544):eaam8572. doi: 10.1126/scitranslmed.aam8572. Sci Transl Med. 2020. PMID: 32434848 Free PMC article.
40 results