(Q80172445)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935016%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935016%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

author name string

Gaixiu Zhang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935016%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Toshiyuki Fukao

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935016%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Satomi Sakurai

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935016%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Keitaro Yamada

4

1 reference

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29 December 2019

K Michael Gibson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935016%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Naomi Kondo

6

1 reference

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29 December 2019

publication date

28 August 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935016%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

29 December 2019

published in

1 reference

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29 December 2019

volume

89

1 reference

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29 December 2019

issue

3

1 reference

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29 December 2019

page(s)

222-226

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935016%20AND%20SRC:MED&resulttype=core&format=json

A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

29 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.06.010

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.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.06.010

Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency

7 January 2021

1 reference

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Alu repeats and human disease

7 January 2021

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Alu repeats and human genomic diversity

7 January 2021

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An Alu-mediated rearrangement as cause of exon skipping in Hunter disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.06.010

Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.06.010

Early nonsense: mRNA decay solves a translational problem

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.06.010

Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.06.010

Standardized nomenclature for Alu repeats.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.06.010

Homeologous recombination between AluSx-sequences as a cause of hemophilia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.06.010

10.1016/J.YMGME.2006.06.010

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935016%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference