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Protein O-mannosylation in metazoan organisms.
Panin VM, Wells L. Panin VM, et al. Curr Protoc Protein Sci. 2014 Feb 3;75:12.12.1-12.12.29. doi: 10.1002/0471140864.ps1212s75. Curr Protoc Protein Sci. 2014. PMID: 24510673 Free PMC article.
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.
Boccuto L, Aoki K, Flanagan-Steet H, Chen CF, Fan X, Bartel F, Petukh M, Pittman A, Saul R, Chaubey A, Alexov E, Tiemeyer M, Steet R, Schwartz CE. Boccuto L, et al. Hum Mol Genet. 2014 Jan 15;23(2):418-33. doi: 10.1093/hmg/ddt434. Epub 2013 Sep 10. Hum Mol Genet. 2014. PMID: 24026681 Free PMC article.
41 results