(Q54479997)

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Two novel variants of human medium chain acyl-CoA dehydrogenase (MCAD). K364R, a folding mutation, and R256T, a catalytic-site mutation resulting in a well-folded but totally inactive protein.

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/16128823

Two novel variants of human medium chain acyl-CoA dehydrogenase (MCAD). K364R, a folding mutation, and R256T, a catalytic-site mutation resulting in a well-folded but totally inactive protein. (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/16128823

protein folding

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Brage Storstein Andresen

2

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/16128823

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Linda P O'Reilly

1

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/16128823

Paul C Engel

3

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/16128823

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publication date

1 September 2005

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/16128823

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/16128823

272

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/16128823

17

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/16128823

4549-4557

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/16128823

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.04878.X

21 January 2018

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.04878.X

21 January 2018

Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.04878.X

21 January 2018

Thermal unfolding of medium-chain acyl-CoA dehydrogenase and iso(3)valeryl-CoA dehydrogenase: study of the effect of genetic defects on enzyme stability

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.04878.X

21 January 2018

Medium-long-chain chimeric human Acyl-CoA dehydrogenase: medium-chain enzyme with the active center base arrangement of long-chain Acyl-CoA dehydrogenase.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.04878.X

21 January 2018

Biochemical characterization of purified, human recombinant Lys304-->Glu medium-chain acyl-CoA dehydrogenase containing the common disease-causing mutation and comparison with the normal enzyme

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.04878.X

21 January 2018

Crystal structure of rat short chain acyl-CoA dehydrogenase complexed with acetoacetyl-CoA: comparison with other acyl-CoA dehydrogenases

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.04878.X

21 January 2018

Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.04878.X

21 January 2018

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.04878.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.04878.X

21 January 2018

The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.04878.X

21 January 2018

Butyryl-CoA dehydrogenase from Megasphaera elsdenii. Specificity of the catalytic reaction

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.04878.X

21 January 2018

The direct linear plot. A new graphical procedure for estimating enzyme kinetic parameters

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2005.04878.X

21 January 2018

Identifiers

10.1111/J.1742-4658.2005.04878.X

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/16128823

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/16128823

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