Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients (Q24316584)

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English	Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients	scientific article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7883996%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7883996%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

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Branched chain keto acid dehydrogenase E1 subunit alpha

1 reference

GOA release 2020-03-11

branched-chain amino acid catabolic process

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GOA release 2020-03-11

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based on heuristic

inferred from title

4

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27 October 2019

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Chuang JL

1

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27 October 2019

Davie JR

2

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27 October 2019

Chinsky JM

3

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27 October 2019

Cox RP

5

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27 October 2019

Chuang DT

6

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27 October 2019

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1 March 1995

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27 October 2019

Journal of Clinical Investigation

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27 October 2019

95

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27 October 2019

3

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27 October 2019

954-963

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27 October 2019

Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of 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=441427

19 March 2017

Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease

1 reference

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19 March 2017

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19 March 2017

Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of 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=441427

19 March 2017

Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441427

19 March 2017

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

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19 March 2017

Molecular cloning and analysis of the expression of the E1 beta subunit of branched chain alpha-ketoacid dehydrogenase in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441427

19 March 2017

Effect of dietary protein on the liver content and subunit composition of the branched-chain alpha-ketoacid dehydrogenase complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441427

19 March 2017

Branched-chain amino acid metabolism

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19 March 2017

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

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19 March 2017

Regulation of branched-chain alpha-ketoacid dehydrogenase complex by covalent modification

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19 March 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=441427

19 March 2017

The 2-oxo acid dehydrogenase complexes: recent advances

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19 March 2017

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

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19 March 2017

Prediction of the Secondary Structure of Proteins from their Amino Acid Sequence

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19 March 2017

Characterization of the promoter-regulatory region and structural organization of E1 alpha gene (BCKDHA) of human branched-chain alpha-keto acid dehydrogenase complex

1 reference

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27 September 2017

Fusion of Escherichia coli heat-stable enterotoxin and heat-labile enterotoxin B subunit

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27 September 2017

Epstein-Barr virus shuttle vector for stable episomal replication of cDNA expression libraries in human cells

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27 September 2017

Cloning and expression in Escherichia coli of mature E1 beta subunit of bovine mitochondrial branched-chain alpha-keto acid dehydrogenase complex. Mapping of the E1 beta-binding region on E2

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27 September 2017

Expression and assembly of a functional E1 component (alpha 2 beta 2) of mammalian branched-chain alpha-ketoacid dehydrogenase complex in Escherichia coli

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27 September 2017

Protein folding in the cell: the role of molecular chaperones Hsp70 and Hsp60

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27 September 2017

Chaperonins groEL and groES promote assembly of heterotetramers (alpha 2 beta 2) of mammalian mitochondrial branched-chain alpha-keto acid decarboxylase in Escherichia coli

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27 September 2017

Activation of branched-chain alpha-ketoacid dehydrogenase complex by alpha-chloroisocaproate in normal and enzyme-deficient fibroblasts

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30 May 2018

A distinct variant of intermediate maple syrup urine disease.

1 reference

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30 May 2018

Sequence conservation in the alpha and beta subunits of pyruvate dehydrogenase and its similarity to branched-chain alpha-keto acid dehydrogenase

1 reference

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30 May 2018

GroE heat-shock proteins promote assembly of foreign prokaryotic ribulose bisphosphate carboxylase oligomers in Escherichia coli.

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19 June 2018

The reaction cycle of GroEL and GroES in chaperonin-assisted protein folding.

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29 November 2018

Activity state of the branched chain alpha-ketoacid dehydrogenase complex in heart, liver, and kidney of normal, fasted, diabetic, and protein-starved rats.

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29 November 2018

Enzyme assays with mutant cell lines of maple syrup urine disease

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12 December 2020

based on heuristic

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Targeting of 2-oxo acid dehydrogenase complexes to the mitochondrion

1 reference

https://pubmed.ncbi.nlm.nih.gov/7883996

12 December 2020

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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/7883996

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI117804

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Europe PubMed Central

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27 October 2019

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7883996%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

PubMed publication ID

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Europe PubMed Central

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27 October 2019

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