id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_d7b3s35iqfdkhduhiq6fh5n554	S. Tomatsu	Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis	2002	6	.pdf	application/pdf	5351	739	75	study missense mutant models of murine MPS VII with phenotypes L176F patients have �1% of normal GUS activity, but expression of the L176F cDNA in COS cells produced nearly as much Characterization of human GUS protein by x-ray crystallography and homology comparisons among several species suggested R382, E451, and E540 as active-site residues (14). shows the adult phenotype of the three MPS VII mutant mice Gustm(L175F)Sly, and Gustm(E536Q)Sly mice showed skeletal dysplasia similar to that seen in the previously described MPS VII Tissue levels of enzyme activity and GAGs in Gustm(E536A)Sly, residual activity in liver, kidney, brain, and spleen; Gustm(L175F)Sly mice have (B) Gustm(E536A)Sly mice show a higher secondary elevation Gustm(L175F)Sly mice had residual enzyme activity, between 0.1% The GUS activities in the Gustm(E536Q)Sly and Gustm(L175F)Sly mice level of GAGs in urine from Gustm(E536A)Sly mice was 10-fold Gustm(L175F)Sly mutations by 4 –5 months of age, the mice were	./cache/work_d7b3s35iqfdkhduhiq6fh5n554.pdf	./txt/work_d7b3s35iqfdkhduhiq6fh5n554.txt