(Q28118702)

4 January 2017

title

Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families (English)

1 reference

Acetyl-CoA acetyltransferase 1

4 January 2017

main subject

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isoleucine catabolic process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

T. Fukao

1

1 reference

4 January 2017

S. Yamaguchi

2

1 reference

4 January 2017

C. R. Scriver

3

1 reference

4 January 2017

G. Dunbar

4

1 reference

4 January 2017

A. Wakazono

5

1 reference

4 January 2017

M. Kano

6

1 reference

4 January 2017

T. Orii

7

1 reference

4 January 2017

T. Hashimoto

8

1 reference

4 January 2017

publication date

1 January 1993

1 reference

4 January 2017

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4 January 2017

volume

2

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4 January 2017

issue

3

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4 January 2017

page(s)

214–220

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Context effects and inefficient initiation at non-AUG codons in eucaryotic cell-free translation systems

4 January 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

The oxoacyl-coenzyme A thiolases of animal tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

7 January 2021

An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

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

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

7 January 2021

Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

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/10.1002%2FHUMU.1380020310

7 January 2021

Molecular basis of 3-ketothiolase deficiency: identification of an AG to AC substitution at the splice acceptor site of intron 10 causing exon 11 skipping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

7 January 2021

Molecular basis of 3-ketothiolase deficiency: detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

7 January 2021

Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

7 January 2021

At least six nucleotides preceding the AUG initiator codon enhance translation in mammalian cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

7 January 2021

Chromosome mapping of the human mitochondrial acetoacetyl-coenzyme A thiolase gene to 11q22.3----q23.1 by fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

7 January 2021

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

7 January 2021

An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

7 January 2021

The presence of a new 3-oxoacyl-CoA thiolase in rat liver peroxisomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

7 January 2021

An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

7 January 2021

Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

7 January 2021

Efficient selection for high-expression transfectants with a novel eukaryotic vector

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

7 January 2021

Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

7 January 2021

Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

7 January 2021

Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020310

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380020310

0 references

1 reference