id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_lhv56i47rrbsbag7be6kfoukqi	Gaurav V Harlalka	Mutation of HERC2 causes developmental delay with Angelman-like features	2012.0	10	.pdf	application/pdf	5952	739	59	Mutation of HERC2 causes developmental delay with Angelman-like features mechanism underlying a number of genetic disorders.1 Sequences homologous to the HERC2 (HECT Twenty-four hours after transfection, 30% of the cells were lysed under non-denaturing conditions to determine expression levels of E6AP, p.Ile53Ser Ring1B known HERC2 interacting proteins such as E6AP or XPA, or the of the p.Pro594Leu HERC2 mutant (figure 2B) indicating that p.Pro594Leu HERC2 substitution on E6AP E3 ligase activity. stimulate E6AP-mediated ubiquitination of Ring1B in a dosedependent manner (figure 4), however mutant HERC2 was and may not in itself be functionally significant, the dosedependent nature of HERC2 on E6AP activation is likely to HERC2 RLD2,10 whereas the variant reported here affects mutation on HERC2 protein levels, which likely relate to The modest effect on E6AP stimulation associated with the HERC2 p.Pro594Leu mutation described here Figure 2 (A) Levels of HERC2 are diminished in fibroblasts from affected individuals.	./cache/work_lhv56i47rrbsbag7be6kfoukqi.pdf	./txt/work_lhv56i47rrbsbag7be6kfoukqi.txt