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Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.
Colonna MB, Moss T, Mokashi S, Srikanth S, Jones JR, Foley JR, Skinner C, Lichty A, Kocur A, Wood T, Stewart TM, Casero RA Jr, Flanagan-Steet H, Edison AS, Lyons MJ, Steet R. Colonna MB, et al. Among authors: flanagan steet h. Hum Mol Genet. 2023 Feb 19;32(5):732-744. doi: 10.1093/hmg/ddac226. Hum Mol Genet. 2023. PMID: 36067040 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.
39 results