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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: spelbrink h. 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.
The V368i mutation in Twinkle does not segregate with AdPEO.
Arenas J, Briem E, Dahl H, Hutchison W, Lewis S, Martin MA, Spelbrink H, Tiranti V, Jacobs H, Zeviani M. Arenas J, et al. Among authors: spelbrink h. Ann Neurol. 2003 Feb;53(2):278. doi: 10.1002/ana.10430. Ann Neurol. 2003. PMID: 12557300 No abstract available.