(Q24620141)

English

Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease

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scholarly article

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Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease (English)

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author name string

Y Nobukuni

1

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H Mitsubuchi

2

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F Endo

3

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I Akaboshi

4

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J Asaka

5

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I Matsuda

6

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language of work or name

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publication date

July 1990

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Journal of Clinical Investigation

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86

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1

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242-7

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Purification and properties of branched-chain alpha-keto acid dehydrogenase phosphatase from bovine kidney

1 reference

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7 April 2017

Cloning and sequencing of cDNAs encoding alpha and beta subunits of human pyruvate dehydrogenase

1 reference

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7 April 2017

Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component human alpha-ketoacid dehydrogenase complexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296713

7 April 2017

Evidence for both a regulatory mutation and a structural mutation in a family with 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=296713

7 April 2017

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

1 reference

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DNA sequencing with chain-terminating inhibitors

1 reference

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Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs

1 reference

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7 April 2017

Unidirectional digestion with exonuclease III creates targeted breakpoints for DNA sequencing

1 reference

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7 April 2017

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

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7 April 2017

Nucleotide and deduced amino acid sequence of the E1 alpha subunit of human liver branched-chain alpha-ketoacid dehydrogenase

1 reference

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Isolation of rabbit liver branched chain alpha-ketoacid dehydrogenase and regulation by phosphorylation

1 reference

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7 April 2017

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

1 reference

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Rapid similarity searches of nucleic acid and protein data banks

1 reference

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Isolation and sequence determination of cDNA clones for porcine and human lipoamide dehydrogenase. Homology to other disulfide oxidoreductases

1 reference

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7 April 2017

1 reference

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7 April 2017

Nucleotide sequence of a cDNA for branched chain acyltransferase with analysis of the deduced protein structure

1 reference

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cDNA cloning and expression in Escherichia coli of a plasminogen activator inhibitor from human placenta

1 reference

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7 April 2017

Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296713

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Conservation of primary structure in the lipoyl-bearing and dihydrolipoyl dehydrogenase binding domains of mammalian branched-chain alpha-keto acid dehydrogenase complex: molecular cloning of human and bovine transacylase (E2) cDNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296713

7 April 2017

Complete primary structure of the transacylase (E2b) subunit of the human branched chain alpha-keto acid dehydrogenase complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296713

7 April 2017

Construction and nucleotide sequence of a cDNA encoding the full-length preprotein for human branched chain acyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296713

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The 2-oxo acid dehydrogenase complexes: recent advances

1 reference

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7 April 2017

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

1 reference

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Dideoxy sequencing method using denatured plasmid templates

1 reference

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1 reference

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Dephosphorylation and reactivation of phosphorylated purified ox‐kidney branched‐chain dehydrogenase complex by co‐purified phosphatase

1 reference

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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=296713

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Isolation and characterization of a complementary DNA clone coding for the E1 beta subunit of the bovine branched-chain alpha-ketoacid dehydrogenase complex: complete amino acid sequence of the precursor protein and its proteolytic processing

1 reference

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Lysosomal enzyme activities in cultured lymphoid cell lines

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Purification of rat kidney branched-chain oxo acid dehydrogenase complex with endogenous kinase activity

1 reference

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Resolution and reconstitution of bovine kidney branched-chain 2-oxo acid dehydrogenase complex

1 reference

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Mitochondrial targeting sequences may form amphiphilic helices

1 reference

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Reversion of the maple syrup urine disease phenotype of impaired branched chain alpha-ketoacid dehydrogenase complex activity in fibroblasts from an affected child

1 reference

https://pubmed.ncbi.nlm.nih.gov/2365818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial presequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/2365818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of the branched chain 2-oxoacid dehydrogenase kinase reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/2365818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multi-site phosphorylation in ox-kidney branched-chain 2-oxoacid dehydrogenase complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/2365818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multi-site phosphorylation of branched-chain 2-oxoacid dehydrogenase complex within mitochondria isolated from rat liver, kidney and heart

1 reference

https://pubmed.ncbi.nlm.nih.gov/2365818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of bovine kidney branched-chain 2-oxoacid dehydrogenase complex by reversible phosphorylation

1 reference

https://pubmed.ncbi.nlm.nih.gov/2365818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/2365818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI114690

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