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V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.
J Biol Chem. 2002 Mar 1;277(9):7136-43. doi: 10.1074/jbc.M111419200. Epub 2001 Dec 20.
J Biol Chem. 2002.
PMID: 11751922
Free article.
Positive regulation of promoter activity of human 3-phosphoglycerate dehydrogenase (PHGDH) gene is mediated by transcription factors Sp1 and NF-Y.
Jun DY, Park HS, Lee JY, Baek JY, Park HK, Fukui K, Kim YH.
Jun DY, et al.
Gene. 2008 May 15;414(1-2):106-14. doi: 10.1016/j.gene.2008.02.018. Epub 2008 Mar 4.
Gene. 2008.
PMID: 18378410
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3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.
Jaeken J, Detheux M, Van Maldergem L, Foulon M, Carchon H, Van Schaftingen E.
Jaeken J, et al.
Arch Dis Child. 1996 Jun;74(6):542-5. doi: 10.1136/adc.74.6.542.
Arch Dis Child. 1996.
PMID: 8758134
Free PMC article.
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