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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. Among authors: el yacoubi b. 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.
Evidence that COG0325 proteins are involved in PLP homeostasis.
Prunetti L, El Yacoubi B, Schiavon CR, Kirkpatrick E, Huang L, Bailly M, El Badawi-Sidhu M, Harrison K, Gregory JF, Fiehn O, Hanson AD, de Crécy-Lagard V. Prunetti L, et al. Among authors: el yacoubi b. Microbiology (Reading). 2016 Apr;162(4):694-706. doi: 10.1099/mic.0.000255. Microbiology (Reading). 2016. PMID: 26872910 Free 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.
23 results