(Q42992488)

English

Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site

scientific article published in January 1999

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

12 November 2017

Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site (English)

1 reference

Europe PubMed Central

PMC publication ID

12 November 2017

author name string

Küchler B

1

1 reference

Europe PubMed Central

PMC publication ID

12 November 2017

Abdel-Ghany AG

2

1 reference

Europe PubMed Central

PMC publication ID

12 November 2017

Bross P

3

1 reference

Europe PubMed Central

PMC publication ID

12 November 2017

Nandy A

4

1 reference

Europe PubMed Central

PMC publication ID

12 November 2017

Rasched I

5

1 reference

Europe PubMed Central

PMC publication ID

12 November 2017

Ghisla S

6

1 reference

Europe PubMed Central

PMC publication ID

12 November 2017

language of work or name

0 references

publication date

1 January 1999

1 reference

Europe PubMed Central

PMC publication ID

12 November 2017

number of pages

6

1 reference

based on heuristic

inferred from page(s)

Biochemical Journal

1 reference

Europe PubMed Central

PMC publication ID

12 November 2017

337 ( Pt 2)

1 reference

Europe PubMed Central

PMC publication ID

12 November 2017

225-230

1 reference

Europe PubMed Central

PMC publication ID

12 November 2017

A new method for preparing flavin-adenine dinucleotide

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219956

26 May 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219956

26 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219956

26 May 2018

Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219956

26 May 2018

A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219956

26 May 2018

Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219956

26 May 2018

Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219956

26 May 2018

A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219956

26 May 2018

The deuterium isotope effect upon the reaction of fatty acyl-CoA dehydrogenase and butyryl-CoA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219956

26 May 2018

Defects of metabolism of fatty acids in the sudden infant death syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219956

26 May 2018

Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219956

26 May 2018

Studies on the reaction mechanism of general acyl-CoA dehydrogenase. Determination of selective isotope effects in the dehydrogenation of butyryl-CoA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219956

26 May 2018

Mechanisms of flavoprotein-catalyzed reactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219956

26 May 2018

Plasmid transformation of Escherichia coli and other bacteria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219956

26 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219956

26 May 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219956

16 August 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219956

16 August 2018

Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219956

16 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219956

16 August 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1219956

16 August 2018

Flavin analogue studies of pig kidney general acyl-CoA dehydrogenase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9882619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An analysis of partial reactions in the overall chain elongation of saturated and unsaturated fatty acids by rat liver microsomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9882619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis of variant medium chain acyl-CoA dehydrogenase in cultured fibroblasts from patients with medium chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9882619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunochemical characterization of variant medium-chain acyl-CoA dehydrogenase in fibroblasts from patients with medium-chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9882619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/9882619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular evolution and substrate specificity of acyl-CoA dehydrogenases: chimaeric "medium/long' chain-specific enzyme from medium-chain acyl-CoA dehydrogenase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9882619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/9882619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An acyl-coenzyme A dehydrogenase assay utilizing the ferricenium ion

1 reference

https://pubmed.ncbi.nlm.nih.gov/9882619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oxidation-reduction of general acyl-CoA dehydrogenase by the butyryl-CoA/crotonyl-CoA couple. A new investigation of the rapid reaction kinetics

1 reference

https://pubmed.ncbi.nlm.nih.gov/9882619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9882619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A New Method for the Preparation of Acyl-CoA Thioesters1

1 reference

https://pubmed.ncbi.nlm.nih.gov/9882619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12

1 reference

https://pubmed.ncbi.nlm.nih.gov/9882619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1042/0264-6021:3370225

1 reference

Europe PubMed Central

PMC publication ID

12 November 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

12 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

12 November 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q42992488&oldid=1975946591"