Article
Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure.
Molecular genetics and metabolism - 1 Mar 2002
Fukao Toshiyuki, Nakamura Haruki, Nakamura Kozue, Perez-Cerda Celia, Baldellou Antonio, Barrionuevo Carlos R, Castello Francisco Girona, Kohno Yoshinori, Ugarte Magdalena, Kondo Naomi
Abstract excerpt
Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of ketone body and isoleucine metabolism. We identified and characterized 6 mutations, DelE85, K124R, A127V, Q145E, G152A, and E345V in 5 Spanish T2-deficient patients. Transient expression of mutant cDNAs was done at 37 and at 30 degrees C. Expression of the Q145E mutant cDNA resulted in about 12.5% normal amount at 37 degrees C and it...
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