id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_sysg4bom4vgwxninawiccja4iy	J L Chuang	Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients	1995	10	.pdf	application/pdf	9654	865	65	unrelated Hispanic-Mexican MSUD patients with the intermediate clinical phenotype were diagnosed 7 to 22 mo after mutant Ela subunits in transfected cells failed to efficiently keto acid dehydrogenase complex * El dysfunction * pulsechase labeling , defective heterotetrameric assembly * molecular chaperones the fourth intermediate patient B.S. and a classic patient L.C. In contrast, the Ela subunit is present in normal amounts in The results of SSCP indicated that intermediate patient B.S. is homozygous for a mutation in exon 9. Fig. 7 shows that untransfected normal lymphoblasts have substantial (100%) enzyme activity, (lane 1), and that LMK cells transfected with showed reduced levels of the Ela subunit, compared to normal The LMK cells transfected with vector having a normal, N222S or R220W Ela cDNAs restored the E1f6 subunit N222S or R220W mutation are able to assemble with endogenous E1/6, similar to normal Ela. The mutant El proteins containing these mutations have markedly reduced El enzymatic	./cache/work_sysg4bom4vgwxninawiccja4iy.pdf	./txt/work_sysg4bom4vgwxninawiccja4iy.txt