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

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scientific journal article

Language	Label	Description	Also known as
English	ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease	scientific journal article

Statements

scholarly article

1 reference

PubMed publication ID

31 January 2017

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

1 reference

PubMed publication ID

31 January 2017

Branched chain aminotransferase 2, mitochondrial

1 reference

GOA release 2020-03-11

Branched chain aminotransferase 1, cytosolic

1 reference

GOA release 2020-03-11

1 reference

based on heuristic

inferred from title

maple syrup urine disease

1 reference

based on heuristic

inferred from title

Yuan-Tsong Chen

7

object named as

Yuan-Tsong Chen

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PubMed publication ID

31 January 2017

author name string

Jer-Yuarn Wu

1

1 reference

PubMed publication ID

31 January 2017

Hsiao-Jung Kao

2

1 reference

PubMed publication ID

31 January 2017

Sing-Chung Li

3

1 reference

PubMed publication ID

31 January 2017

Robert Stevens

4

1 reference

PubMed publication ID

31 January 2017

Steven Hillman

5

1 reference

PubMed publication ID

31 January 2017

David Millington

6

1 reference

PubMed publication ID

31 January 2017

language of work or name

0 references

publication date

1 February 2004

1 reference

PubMed publication ID

31 January 2017

Journal of Clinical Investigation

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PubMed publication ID

31 January 2017

113

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PubMed publication ID

31 January 2017

3

1 reference

PubMed publication ID

31 January 2017

434–440

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PubMed publication ID

31 January 2017

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

1 reference

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

17 March 2017

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

1 reference

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

17 March 2017

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

1 reference

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

7 April 2017

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

1 reference

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

29 September 2017

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

1 reference

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

29 September 2017

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

1 reference

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

29 September 2017

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

1 reference

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

29 September 2017

Hypervalinemia. A defect in valine transamination

1 reference

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

29 September 2017

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

1 reference

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

3 June 2018

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

1 reference

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

3 June 2018

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

1 reference

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

27 November 2018

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

1 reference

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

27 November 2018

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

1 reference

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

27 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14755340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14755340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The future is function

1 reference

https://pubmed.ncbi.nlm.nih.gov/14755340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14755340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14755340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/14755340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14755340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14755340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A sibship with hypervalinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/14755340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14755340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14755340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/14755340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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