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Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.
Mohamed M, Gardeitchik T, Balasubramaniam S, Guerrero-Castillo S, Dalloyaux D, van Kraaij S, Venselaar H, Hoischen A, Urban Z, Brandt U, Al-Shawi R, Simons JP, Frison M, Ngu LH, Callewaert B, Spelbrink H, Kallemeijn WW, Aerts JMFG, Waugh MG, Morava E, Wevers RA. Mohamed M, et al. Among authors: waugh mg. J Inherit Metab Dis. 2020 Nov;43(6):1382-1391. doi: 10.1002/jimd.12255. Epub 2020 Jun 26. J Inherit Metab Dis. 2020. PMID: 32418222 Free PMC article.
PIPs in neurological diseases.
Waugh MG. Waugh MG. Biochim Biophys Acta. 2015 Aug;1851(8):1066-82. doi: 10.1016/j.bbalip.2015.02.002. Epub 2015 Feb 11. Biochim Biophys Acta. 2015. PMID: 25680866 Review.
47 results