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GlcNAc-Asn is a biomarker for NGLY1 deficiency.
Mueller WF, Zhu L, Tan B, Dwight S, Beahm B, Wilsey M, Wechsler T, Mak J, Cowan T, Pritchett J, Taylor E, Crawford BE. Mueller WF, et al. Among authors: mak j. J Biochem. 2022 Feb 21;171(2):177-186. doi: 10.1093/jb/mvab111. J Biochem. 2022. PMID: 34697629 Free PMC article.
Metabolic profiling by reversed-phase/ion-exchange mass spectrometry.
Le A, Mak J, Cowan TM. Le A, et al. Among authors: mak j. J Chromatogr B Analyt Technol Biomed Life Sci. 2020 Apr 15;1143:122072. doi: 10.1016/j.jchromb.2020.122072. Epub 2020 Mar 16. J Chromatogr B Analyt Technol Biomed Life Sci. 2020. PMID: 32220802
SETD3 is an actin histidine methyltransferase that prevents primary dystocia.
Wilkinson AW, Diep J, Dai S, Liu S, Ooi YS, Song D, Li TM, Horton JR, Zhang X, Liu C, Trivedi DV, Ruppel KM, Vilches-Moure JG, Casey KM, Mak J, Cowan T, Elias JE, Nagamine CM, Spudich JA, Cheng X, Carette JE, Gozani O. Wilkinson AW, et al. Among authors: mak j. Nature. 2019 Jan;565(7739):372-376. doi: 10.1038/s41586-018-0821-8. Epub 2018 Dec 10. Nature. 2019. PMID: 30626964 Free PMC article.
13 results