Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency (Q22010247)

long-chain-enoyl-CoA hydratase activity

GOA release 2020-03-11

1 reference

D-bifunctional protein deficiency

GOA release 2020-03-11

1 reference

1 reference

E G van Grunsven

1

E G

van Grunsven

1 reference

7 February 2023

P A Mooijer

series ordinal

2

author given names

P A

author last names

Mooijer

1 reference

7 February 2023

P Aubourg

series ordinal

3

author given names

P

author last names

Aubourg

1 reference

7 February 2023

R J Wanders

series ordinal

4

author given names

R J

author last names

Wanders

1 reference

Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies

7 February 2023

language of work or name

English

0 references

publication date

August 1999

0 references

published in

Human Molecular Genetics

0 references

volume

8

0 references

issue

8

0 references

page(s)

1509-16

0 references

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Complementation analysis of fibroblasts from peroxisomal fatty acid oxidation deficient patients shows high frequency of bifunctional enzyme deficiency plus intragenic complementation: unequivocal evidence for differential defects in the same enzyme

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Sterol carrier protein X (SCPx) is a peroxisomal branched-chain beta-ketothiolase specifically reacting with 3-oxo-pristanoyl-CoA: a new, unique role for SCPx in branched-chain fatty acid metabolism in peroxisomes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Oronasopharyngeal teratomas

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Bifunctional enzyme deficiency: identification of a new type of peroxisomal disorder in a patient with an impairment in peroxisomal beta-oxidation of unknown aetiology by means of complementation analysis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Structure of the gene for the human 17beta-hydroxysteroid dehydrogenase type IV

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

The sequence of porcine 80 kDa 17 beta-estradiol dehydrogenase reveals similarities to the short chain alcohol dehydrogenase family, to actin binding motifs and to sterol carrier protein 2

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Genetic heterogeneity in patients with a disorder of peroxisomal beta-oxidation: a complementation study based on pristanic acid beta-oxidation suggesting different enzyme defects

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Molecular cloning of a novel widely expressed human 80 kDa 17 beta-hydroxysteroid dehydrogenase IV

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Peroxisomal multifunctional enzyme of beta-oxidation metabolizing D-3-hydroxyacyl-CoA esters in rat liver: molecular cloning, expression and characterization

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Identification and characterization of the 2-enoyl-CoA hydratases involved in peroxisomal beta-oxidation in rat liver

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Evidence that multifunctional protein 2, and not multifunctional protein 1, is involved in the peroxisomal beta-oxidation of pristanic acid

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Recombinant 2-enoyl-CoA hydratase derived from rat peroxisomal multifunctional enzyme 2: role of the hydratase reaction in bile acid synthesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Substrate specificities of 3-oxoacyl-CoA thiolase A and sterol carrier protein 2/3-oxoacyl-CoA thiolase purified from normal rat liver peroxisomes. Sterol carrier protein 2/3-oxoacyl-CoA thiolase is involved in the metabolism of 2-methyl-branched fa

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Purification and properties of human D-3-hydroxyacyl-CoA dehydratase: medium-chain enoyl-CoA hydratase is D-3-hydroxyacyl-CoA dehydratase

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Structure of D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Physiological role of D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Thiolase involved in bile acid formation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Purification and properties of acyl-CoA oxidase from rat liver

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Properties of mitochondria and peroxisomal enoyl-CoA hydratases from rat liver

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Properties of Peroxisomal 3-Ketoacyl-CoA Thiolase from Rat Liver1

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Molecular cloning and amino acid sequence of the porcine 17 beta-estradiol dehydrogenase

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Further characterization of the peroxisomal 3-hydroxyacyl-CoA dehydrogenases from rat liver. Relationship between the different dehydrogenases and evidence that fatty acids and the C27 bile acids di- and tri-hydroxycoprostanic acids are metabolized

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Metabolic aspects of peroxisomal disorders

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Rapid and simple method for purification of nucleic acids

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defects

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Site-directed mutagenesis by double polymerase chain reaction : megaprimer method

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1509

7 January 2021

Identifiers

DOI

10.1093/HMG/8.8.1509

0 references