(Q28301358)

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Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease (English)

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author name string

Y Indo

1

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A Kitano

2

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F Endo

3

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I Akaboshi

4

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I Matsuda

5

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language of work or name

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publication date

July 1987

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Journal of Clinical Investigation

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80

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1

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63-70

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Protein measurement with the Folin phenol reagent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442202

20 March 2017

Plaque formation and isolation of pure lines with poliomyelitis viruses

1 reference

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20 March 2017

Activities of branched-chain 2-oxo acid dehydrogenase and its components in skin fibroblasts from normal and classical-maple-syrup-urine-disease subjects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442202

20 March 2017

Identification of specific subunits of highly purified bovine liver branched-chain ketoacid dehydrogenase

1 reference

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20 March 2017

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

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20 March 2017

Enzymic Studies on the Biosynthesis of Serotonin in Mammalian Brain

1 reference

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20 March 2017

Regulation of mammalian pyruvate and branched-chain alpha-keto acid dehydrogenase complexes by phosphorylation-dephosphorylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442202

20 March 2017

Purification and characterization of branched chain alpha-ketoacid dehydrogenase from bovine liver mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442202

20 March 2017

Purification and characterization of branched chain alpha-keto acid dehydrogenase complex of bovine kidney

1 reference

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20 March 2017

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

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7 April 2017

A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442202

29 September 2017

Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442202

29 September 2017

Absence of branched chain acyl-transferase as a cause of maple syrup urine disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442202

29 September 2017

Deficiency of the pyruvate dehydrogenase component in pyruvate dehydrogenase complex-deficient human fibroblasts. Immunological identification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442202

29 September 2017

Heterogeneity in maple syrup urine disease: Aspects of cofactor requirement and complementation in cultured fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442202

29 September 2017

Purification of 2-oxo acid dehydrogenase multienzyme complexes from ox heart by a new method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442202

2 June 2018

Organic acids and branched-chain amino acids in body fluids before and after multiple exchange transfusions in maple syrup urine disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442202

2 June 2018

Antibodies to bovine liver branched-chain 2-oxo acid dehydrogenase cross-react with this enzyme complex from other tissues and species

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442202

2 June 2018

Thiamine-responsive maple-syrup-urine disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442202

2 June 2018

Active-site modification of mammalian pyruvate dehydrogenase by pyridoxal 5'-phosphate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442202

2 June 2018

Maple syrup urine disease: branched-chain amino acid concentrations and metabolism in cultured human lymphoblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442202

2 June 2018

A mild procedure for the rapid release of cytoplasmic enzymes from cultured animal cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442202

2 June 2018

Deficiency of Dihydrolipoyl Dehydrogenase (a Component of the Pyruvate and α-Ketoglutarate Dehydrogenase Complexes): A Cause of Congenital Chronic Lactic Acidosis in Infancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442202

2 June 2018

Lysosomal enzyme activities in cultured lymphoid cell lines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442202

2 June 2018

Intermittent branched-chain ketonuria. Variant of maple-syrup-urine disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/3597778

12 December 2020

based on heuristic

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A simple method for producing antibody specific to a single selected diffusible antigen

1 reference

https://pubmed.ncbi.nlm.nih.gov/3597778

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation

1 reference

https://pubmed.ncbi.nlm.nih.gov/3597778

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/3597778

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maple syrup urine disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/3597778

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and biochemical observations on an apparently nonfatal variant of branched-chain ketoaciduria (maple syrup urine disease)

1 reference

https://pubmed.ncbi.nlm.nih.gov/3597778

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A rapid and simple procedure to deplete rat-liver mitochondria of lysosomal activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/3597778

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzyme activity in classical and variant forms of maple syrup urine disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/3597778

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complementation Analysis of Maple Syrup Urine Disease in Heterokaryons derived from Cultured Human Fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/3597778

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Subcellular distribution and cofactor function of human branched chain alpha-ketoacid dehydrogenase in normal and mutant cultured skin fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/3597778

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Defect in Branched-Chain Amino Acid Metabolism in a Patient with Congenital Lactic Acidosis due to Dihydrolipoyl Dehydrogenase Deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/3597778

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Collection and uses of lymphocyte cultures

1 reference

https://pubmed.ncbi.nlm.nih.gov/3597778

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid purification of bovine kidney branched-chain 2-oxoacid dehydrogenase complex containing endogenous kinase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/3597778

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification and immunochemical studies of pyruvate dehydrogenase complex from rat heart, and cell-free synthesis of lipoamide dehydrogenase, a component of the complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/3597778

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Study on established lymphoid cells in maple syrup urine disease. Correlation with clinical heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/3597778

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lipoamide dehydrogenase from human liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/3597778

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI113064

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