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-Reference-Cited by-同舟云学术

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

Published:2007-04 Issue:4 Volume:90 Page:370-378
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

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

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference28 articles.

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3. T2 Collaborative Working Group, The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (β-ketothiolase deficiency) in 26 enzymatically proved and mutation defined patients;Fukao;Mol. Genet. Metab.,2001

4. Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene;Fukao;Hum. Mutat.,1995

5. Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3′ splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency;Fukao;Hum. Mutat.,1995

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