Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme (Q72191040)

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scientific article published on 01 April 1995

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English	Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme	scientific article published on 01 April 1995

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scholarly article

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24 October 2019

Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme (English)

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24 October 2019

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C Jespersen

2

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T G Jensen

3

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B S Andresen

4

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M J Kristensen

5

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V Winter

6

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A Nandy

7

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F Kräutle

8

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S Ghisla

9

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L Bolundi

10

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publication date

1 April 1995

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7

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Journal of Biological Chemistry

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10284-10290

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24 October 2019

Fatty acid oxidation disorders: A new class of metabolic diseases

1 reference

https://api.crossref.org/works/10.1074%2FJBC.270.17.10284

21 January 2018

Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.270.17.10284

21 January 2018

Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.270.17.10284

21 January 2018

Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli

1 reference

https://api.crossref.org/works/10.1074%2FJBC.270.17.10284

21 January 2018

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1074%2FJBC.270.17.10284

21 January 2018

Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.270.17.10284

21 January 2018

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: The Prevalent Mutation G985 (K304E) Is Subject to a Strong Founder Effect from Northwestern Europe

1 reference

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21 January 2018

Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency

1 reference

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21 January 2018

Molecular chaperones in protein folding: the art of avoiding sticky situations

1 reference

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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/10.1074%2FJBC.270.17.10284

21 January 2018

Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate

1 reference

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21 January 2018

Octanoic acidemia and octanoylcarnitine excretion with dicarboxylic aciduria due to defective oxidation of medium-chain fatty acids

1 reference

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21 January 2018

Improved site-directed mutagenesis method using PCR.

1 reference

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21 January 2018

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

1 reference

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21 January 2018

An acyl-coenzyme A dehydrogenase assay utilizing the ferricenium ion

1 reference

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21 January 2018

Characterization of wild-type human medium-chain acyl-CoA dehydrogenase (MCAD) and mutant enzymes present in MCAD-deficient patients by two-dimensional gel electrophoresis: evidence for post-translational modification of the enzyme.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.270.17.10284

21 January 2018

In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase

1 reference

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21 January 2018

MOLSCRIPT: a program to produce both detailed and schematic plots of protein structures

1 reference

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21 January 2018

Molecular cloning and nucleotide sequence of cDNAs encoding human long-chain acyl-CoA dehydrogenase and assignment of the location of its gene (ACADL) to chromosome 2.

1 reference

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21 January 2018

Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue

1 reference

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21 January 2018

Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency

1 reference

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21 January 2018

Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts

1 reference

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21 January 2018

Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency

1 reference

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21 January 2018

The mechanism and functions of ATP-dependent proteases in bacterial and animal cells

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Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

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Identifiers

10.1074/JBC.270.17.10284

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7730333%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7730333%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

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