B56delta-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, Vogt J, McKee S, Tolmie JL, Cordeiro N, Kleefstra T, Willemsen MH, Reijnders MR, Berland S, Hayman E, Lahat E, Brilstra EH, van Gassen KL, Zonneveld-Huijssoon E, de Bie CI, Hoischen A, Eichler EE, Holdhus R, Steen VM, Døskeland SO, Hurles ME, FitzPatrick DR, Janssens V.
Houge G, et al.
J Clin Invest. 2015 Aug 3;125(8):3051-62. doi: 10.1172/JCI79860. Epub 2015 Jul 13.
J Clin Invest. 2015.
PMID: 26168268
Free PMC article.
Ten patients had mutations within a highly conserved acidic loop of the PPP2R5D-encoded B56delta regulatory subunit, with the same E198K mutation present in 6 individuals. ...Functional evaluation revealed that mutant A and B subunits were stabl …
Ten patients had mutations within a highly conserved acidic loop of the PPP2R5D-encoded B56delta regulatory subunit …