(Q79607785)

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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

scientific article published on 22 January 2007

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24 December 2019

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 (English)

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24 December 2019

Ronald J A Wanders

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Ronald J A Wanders

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24 December 2019

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Satomi Sakurai

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24 December 2019

Toshiyuki Fukao

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24 December 2019

Antti M Haapalainen

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24 December 2019

Gaixiu Zhang

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24 December 2019

Keitaro Yamada

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24 December 2019

Franco Lilliu

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24 December 2019

Shoji Yano

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24 December 2019

Peter Robinson

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24 December 2019

Michael K Gibson

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24 December 2019

Grant A Mitchell

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24 December 2019

Rik K Wierenga

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24 December 2019

Naomi Kondo

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24 December 2019

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22 January 2007

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24 December 2019

Molecular Genetics and Metabolism

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24 December 2019

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24 December 2019

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24 December 2019

370-378

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24 December 2019

The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.002

7 January 2021

Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.002

7 January 2021

Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.002

7 January 2021

Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.002

7 January 2021

Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency

1 reference

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7 January 2021

Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy

1 reference

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7 January 2021

A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.002

7 January 2021

Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.002

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.002

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.002

7 January 2021

Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.002

7 January 2021

Identification of Alu-mediated, large deletion-spanning exons 2-4 in a patient with mitochondrial acetoacetyl-CoA thiolase deficiency

1 reference

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7 January 2021

Acetoacetyl CoA thiolase deficiency: A cause of severe ketoacidosis in infancy simulating salicylism

1 reference

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7 January 2021

Immunotitration analysis of cytosolic acetoacetyl-coenzyme A thiolase activity in human fibroblasts

1 reference

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7 January 2021

Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases

1 reference

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7 January 2021

Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.002

7 January 2021

Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency

1 reference

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7 January 2021

High resolution crystal structures of human cytosolic thiolase (CT): a comparison of the active sites of human CT, bacterial thiolase, and bacterial KAS I.

1 reference

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7 January 2021

The catalytic cycle of biosynthetic thiolase: a conformational journey of an acetyl group through four binding modes and two oxyanion holes

1 reference

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7 January 2021

Improved methods for building protein models in electron density maps and the location of errors in these models

1 reference

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7 January 2021

Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiency

1 reference

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7 January 2021

The thiolase superfamily: condensing enzymes with diverse reaction specificities

1 reference

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7 January 2021

The oxoacyl-coenzyme A thiolases of animal tissues

1 reference

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7 January 2021

Identifiers

10.1016/J.YMGME.2006.12.002

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24 December 2019

PubMed publication ID

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Europe PubMed Central

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24 December 2019

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