2003
DOI: 10.1074/jbc.m304276200 View full text |Buy / Rent full text
|
|

Abstract: This study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria in patients from Germany, England, and Argentina. Expression studies in Escherichia coli show that S75R and S201Y substitutions completely abolished the HMG-CoA lyase activity, whereas D204N reduced catalytic efficiency to 6.6% of the wild type. We also propose a threedimensional model for human HMG-CoA lyase contain… Show more

Help me understand this report

Search citation statements

Order By: Relevance
Select...
0
13
0

Publication Types

Select...

Relationship

0
0

Authors

Journals