(Q40646846)

English

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

scientific article published on June 1, 2003

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scholarly article

1 reference

Europe PubMed Central

22 September 2017

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 (English)

1 reference

Europe PubMed Central

22 September 2017

1 reference

10.1002/HUMU.10209

https://api.crossref.org/works/10.1002/HUMU.10209

3 January 2024

author name string

Toshiyuki Fukao

1

1 reference

Europe PubMed Central

22 September 2017

Naoki Matsuo

2

1 reference

Europe PubMed Central

22 September 2017

Gai Xiu Zhang

3

1 reference

Europe PubMed Central

22 September 2017

Rintaro Urasawa

4

1 reference

Europe PubMed Central

22 September 2017

Tetsuo Kubo

5

1 reference

Europe PubMed Central

22 September 2017

Yoshinori Kohno

6

1 reference

Europe PubMed Central

22 September 2017

Naomi Kondo

7

1 reference

Europe PubMed Central

22 September 2017

language of work or name

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12754704

3 January 2024

publication date

1 June 2003

1 reference

Europe PubMed Central

22 September 2017

full work available at URL

https://doi.org/10.1002/humu.10209

online access status

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12754704

3 January 2024

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.10209

1 reference

10.1002/HUMU.10209

https://api.crossref.org/works/10.1002/HUMU.10209

3 January 2024

https://onlinelibrary.wiley.com/doi/full/10.1002/humu.10209

1 reference

10.1002/HUMU.10209

https://api.crossref.org/works/10.1002/HUMU.10209

3 January 2024

1 reference

Europe PubMed Central

22 September 2017

21

1 reference

Europe PubMed Central

22 September 2017

587-592

1 reference

Europe PubMed Central

22 September 2017

6

1 reference

Europe PubMed Central

22 September 2017

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10209

21 January 2018

Initiation codon mutation of the tyrosinase gene as a cause of human albinism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

Human basic fibroblast growth factor gene encodes four polypeptides: three initiate translation from non-AUG codons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

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.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1002%2FHUMU.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1002%2FHUMU.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of E2F-3B, an alternative form of E2F-3 lacking a conserved N-terminal region

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

Recognition of AUG and alternative initiator codons is augmented by G in position +4 but is not generally affected by the nucleotides in positions +5 and +6.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

Initiation of translation at CUG, GUG, and ACG codons in mammalian cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

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.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

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.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1002%2FHUMU.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

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.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10209

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.10209

1 reference

Europe PubMed Central

22 September 2017

1 reference

Europe PubMed Central

22 September 2017

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