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References

These sources were used to develop the Genetics Home Reference gene summary on the ACAT1 gene.

Entrez Gene
Fukao T, Matsuo N, Zhang GX, Urasawa R, Kubo T, Kohno Y, Kondo N. Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptide. Hum Mutat. 2003 Jun;21(6):587-92. PubMed citation
Fukao T, Scriver CR, Kondo N; t2 Collaborative Working Group. The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients. Mol Genet Metab. 2001 Feb;72(2):109-14. PubMed citation
Fukao T, Yamaguchi S, Orii T, Hashimoto T. Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. Hum Mutat. 1995;5(2):113-20. Review. PubMed citation
Kano M, Fukao T, Yamaguchi S, Orii T, Osumi T, Hashimoto T. Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene. Gene. 1991 Dec 30;109(2):285-90. PubMed citation
Korman SH. Inborn errors of isoleucine degradation: a review. Mol Genet Metab. 2006 Dec;89(4):289-99. Epub 2006 Sep 6. Review. PubMed citation
Zhang GX, Fukao T, Rolland MO, Zabot MT, Renom G, Touma E, Kondo M, Matsuo N, Kondo N. Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA. Pediatr Res. 2004 Jul;56(1):60-4. Epub 2004 May 5. PubMed citation


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