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Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.
Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crécy-Lagard V, Mills PB, Clayton PT. Darin N, et al. Am J Hum Genet. 2016 Dec 1;99(6):1325-1337. doi: 10.1016/j.ajhg.2016.10.011. Am J Hum Genet. 2016. PMID: 27912044 Free PMC article.
Discovery of a new prokaryotic type I GTP cyclohydrolase family.
El Yacoubi B, Bonnett S, Anderson JN, Swairjo MA, Iwata-Reuyl D, de Crécy-Lagard V. El Yacoubi B, et al. J Biol Chem. 2006 Dec 8;281(49):37586-93. doi: 10.1074/jbc.M607114200. Epub 2006 Oct 10. J Biol Chem. 2006. PMID: 17032654 Free article.
Functional promiscuity of the COG0720 family.
Phillips G, Grochowski LL, Bonnett S, Xu H, Bailly M, Blaby-Haas C, El Yacoubi B, Iwata-Reuyl D, White RH, de Crécy-Lagard V. Phillips G, et al. ACS Chem Biol. 2012 Jan 20;7(1):197-209. doi: 10.1021/cb200329f. Epub 2011 Oct 26. ACS Chem Biol. 2012. PMID: 21999246 Free PMC article.
184 results