Article
Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure.
Molecular genetics and metabolism - 1 Apr 2007
Sakurai Satomi, Fukao Toshiyuki, Haapalainen Antti M, Zhang Gaixiu, Yamada Keitaro, Lilliu Franco, Yano Shoji, Robinson Peter, Gibson Michael K, Wanders Ronald J A, Mitchell Grant A, Wierenga Rik K, Kondo Naomi
Abstract excerpt
Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of metabolism that affects isoleucine catabolism and ketone body metabolism. We identified 7 novel and 2 previously reported mutations in six T2-deficient patients. Transient expression analysis of wild-type and eight mutant cDNAs was performed at 40, 37 and 30 degrees C. Although no significant residual activity was detected, mutant...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.