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)

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Branched chain aminotransferase 2, mitochondrial

31 January 2017

main subject

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Branched chain aminotransferase 1, cytosolic

GOA release 2020-03-11

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GOA release 2020-03-11

mitochondrion

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maple syrup urine disease

inferred from title

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Yuan-Tsong Chen

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31 January 2017

Jer-Yuarn Wu

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31 January 2017

Hsiao-Jung Kao

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31 January 2017

Sing-Chung Li

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31 January 2017

Robert Stevens

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31 January 2017

Steven Hillman

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31 January 2017

David Millington

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31 January 2017

language of work or name

English

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publication date

1 February 2004

1 reference

Journal of Clinical Investigation

31 January 2017

published in

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31 January 2017

volume

113

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31 January 2017

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31 January 2017

page(s)

434–440

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

31 January 2017

cites work

1 reference

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

17 March 2017

1 reference

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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

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

7 April 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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Hypervalinemia. A defect in valine transamination

29 September 2017

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

29 September 2017

1 reference

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

3 June 2018

1 reference

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

3 June 2018

1 reference

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

27 November 2018

1 reference

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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

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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

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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