(Q44741396)

English

Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype.

scientific article published on 23 January 2004

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scholarly article

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17 November 2019

Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14742428%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

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maple syrup urine disease

1 reference

based on heuristic

inferred from title

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based on heuristic

inferred from title

2

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17 November 2019

author name string

Jacinta L Chuang

1

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17 November 2019

Clint C Moss

3

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17 November 2019

Jiu-Li Song

4

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17 November 2019

Jun Li

5

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17 November 2019

Nibal Awad

6

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17 November 2019

Hanna Mandel

7

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17 November 2019

David T Chuang

8

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17 November 2019

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23 January 2004

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17 November 2019

Journal of Biological Chemistry

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17 November 2019

279

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17 November 2019

17

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17 November 2019

17792-17800

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17 November 2019

Studies on the regulation of the mitochondrial alpha-ketoacid dehydrogenase complexes and their kinases

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Swinging arms and swinging domains in multifunctional enzymes: catalytic machines for multistep reactions

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Biochemical basis of type IB (E1beta ) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Site-directed mutagenesis and functional analysis of the active-site residues of the E2 component of bovine branched-chain alpha-keto acid dehydrogenase complex.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Role of the pleiotropic effects of plasminogen deficiency in infection experiments with plasminogen-deficient mice

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

The C-terminal hinge region of lipoic acid-bearing domain of E2b is essential for domain interaction with branched-chain alpha-keto acid dehydrogenase kinase

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Roles of His291-alpha and His146-beta' in the reductive acylation reaction catalyzed by human branched-chain alpha-ketoacid dehydrogenase: refined phosphorylation loop structure in the active site

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Inhibition of the Escherichia coli pyruvate dehydrogenase complex E1 subunit and its tyrosine 177 variants by thiamin 2-thiazolone and thiamin 2-thiothiazolone diphosphates. Evidence for reversible tight-binding inhibition

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Rotational freedom of tryptophan residues in proteins and peptides.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Heterogeneity of mutations in Maple Syrup Urine Disease (MSUD): screening and identification of affected E1α and E1β subunits of the branched-chain α-keto-acid dehydrogenase multienzyme complex

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Atomic structure of the cubic core of the pyruvate dehydrogenase multienzyme complex

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Altered phosphorylation state of branched-chain 2-oxo acid dehydrogenase in a branched-chain acyltransferase deficient human fibroblast cell line

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Diagnosis and mutational analysis of maple syrup urine disease using cell cultures

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Production of recombinant mammalian holo-E2 and E3 and reconstitution of functional branched-chain alpha-keto acid dehydrogenase complex with recombinant E1

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Inhibition of the bovine branched-chain 2-oxo acid dehydrogenase complex and its kinase by arylidenepyruvates

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Assays for E1 and E2 components of the branched-chain keto acid dehydrogenase complex

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

GroEL/GroES-dependent reconstitution of alpha2 beta2 tetramers of humanmitochondrial branched chain alpha-ketoacid decarboxylase. Obligatory interaction of chaperonins with an alpha beta dimeric intermediate

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Update on nomenclature for human gene mutations. Ad Hoc Committee on Mutation Nomenclature

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Why do some organisms use a urea-methylamine mixture as osmolyte? Thermodynamic compensation of urea and trimethylamine N-oxide interactions with protein

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Monovalent cations and inorganic phosphate alter branched-chain alpha-ketoacid dehydrogenase-kinase activity and inhibitor sensitivity

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Further additions to MolScript version 1.4, including reading and contouring of electron-density maps

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M313879200

21 January 2018

Identifiers

10.1074/JBC.M313879200

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14742428%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14742428%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

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