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SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
Dewulf JP, Wiame E, Dorboz I, Elmaleh-Bergès M, Imbard A, Dumitriu D, Rak M, Bourillon A, Helaers R, Malla A, Renaldo F, Boespflug-Tanguy O, Vincent MF, Benoist JF, Wevers RA, Schlessinger A, Van Schaftingen E, Nassogne MC, Schiff M. Dewulf JP, et al. Among authors: wiame e. Ann Neurol. 2019 Mar;85(3):385-395. doi: 10.1002/ana.25412. Epub 2019 Jan 29. Ann Neurol. 2019. PMID: 30635937
Fructosamine 3-kinase and other enzymes involved in protein deglycation.
Van Schaftingen E, Delpierre G, Collard F, Fortpied J, Gemayel R, Wiame E, Veiga-da-Cunha M. Van Schaftingen E, et al. Among authors: wiame e. Adv Enzyme Regul. 2007;47:261-9. doi: 10.1016/j.advenzreg.2006.12.002. Epub 2007 Mar 6. Adv Enzyme Regul. 2007. PMID: 17337043 Review. No abstract available.
Enzymatic repair of Amadori products.
Van Schaftingen E, Collard F, Wiame E, Veiga-da-Cunha M. Van Schaftingen E, et al. Among authors: wiame e. Amino Acids. 2012 Apr;42(4):1143-50. doi: 10.1007/s00726-010-0780-3. Epub 2010 Oct 22. Amino Acids. 2012. PMID: 20967558 Review.
25 results