ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease (Q28594698)

31 January 2017

title

ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease (English)

1 reference

Branched chain aminotransferase 2, mitochondrial

31 January 2017

main subject

1 reference

Branched chain aminotransferase 1, cytosolic

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

mitochondrion

1 reference

maple syrup urine disease

inferred from title

1 reference

7

Yuan-Tsong Chen

1 reference

31 January 2017

Jer-Yuarn Wu

1

1 reference

31 January 2017

Hsiao-Jung Kao

2

1 reference

31 January 2017

Sing-Chung Li

3

1 reference

31 January 2017

Robert Stevens

4

1 reference

31 January 2017

Steven Hillman

5

1 reference

31 January 2017

David Millington

6

1 reference

31 January 2017

language of work or name

English

0 references

publication date

1 February 2004

1 reference

Journal of Clinical Investigation

31 January 2017

published in

1 reference

31 January 2017

volume

113

1 reference

31 January 2017

issue

3

1 reference

31 January 2017

page(s)

434–440

1 reference

Insertion of Inhbb into the Inhba locus rescues the Inhba-null phenotype and reveals new activin functions

31 January 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324540

Overexpression and characterization of the human mitochondrial and cytosolic branched-chain aminotransferases

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324540

Molecular Cloning and Characterization of Placental Tissue Protein 18 (PP18a)/Human Mitochondrial Branched-chain Aminotransferase (BCATm) and its Novel Alternatively Spliced PP18b Variant

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324540

IDIOPATHIC HYPERVALINEMIA: PROBABLY A NEW ENTITY OF INBORN ERROR OF VALINE METABOLISM

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324540

Amino acid transporters: roles in amino acid sensing and signalling in animal cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324540

A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324540

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324540

Hypervalinemia. A defect in valine transamination

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324540

Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324540

Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324540

A continuous 96-well plate spectrophotometric assay for branched-chain amino acid aminotransferases

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324540

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324540

The biochemical metabolite screen in the Munich ENU Mouse Mutagenesis Project: determination of amino acids and acylcarnitines by tandem mass spectrometry

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324540

Identification of the mitochondrial branched chain aminotransferase as a branched chain alpha-keto acid transport protein

27 November 2018

1 reference

12 December 2020

Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry

1 reference

12 December 2020

The future is function

1 reference

12 December 2020

Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry

1 reference

12 December 2020

Optimal N-ethyl-N-nitrosourea (ENU) doses for inbred mouse strains

1 reference

12 December 2020

Determination of branched-chain alpha-keto acid dehydrogenase activity state and branched-chain alpha-keto acid dehydrogenase kinase activity and protein in mammalian tissues

1 reference

12 December 2020

Use of sulfhydryl reagents to investigate branched chain alpha-keto acid transport in mitochondria

1 reference

12 December 2020

Neutral amino acid transport. Characterization of the A and L systems in isolated rat hepatocytes

1 reference

12 December 2020

A sibship with hypervalinemia

1 reference

12 December 2020

Alloisoleucine formation in maple syrup urine disease: isotopic evidence for the mechanism

1 reference

12 December 2020

The relationship between the branched chain amino acids and their alpha-ketoacids in maple syrup urine disease

1 reference

12 December 2020

Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue

1 reference

12 December 2020