Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme (Q24339584)

fatty acid beta-oxidation

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author name string

J C Heikoop

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C W van Roermund

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W W Just

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R Ofman

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R B Schutgens

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H S Heymans

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R J Wanders

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J M Tager

Journal of Clinical Investigation

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language of work or name

English

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publication date

July 1990

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published in

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volume

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issue

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page(s)

126-30

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cites work

Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency

1 reference

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

19 March 2017

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Peroxisomal disorders in neurology

19 March 2017

1 reference

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Peroxisomal bifunctional enzyme deficiency

27 September 2017

1 reference

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A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)

27 September 2017

1 reference

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Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease

27 September 2017

1 reference

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Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.

27 September 2017

1 reference

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Synthesis of 3-ketoacyl-CoA thiolase of rat liver peroxisomes on free polyribosomes as a larger precursor. Induction of thiolase mRNA activity by clofibrate

30 May 2018

1 reference

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Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors

30 May 2018

1 reference

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Studies on catalase compartmentation in digitonin-treated rat hepatocytes

30 May 2018

1 reference

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Enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine: glyoxylate aminotransferase activity

30 May 2018

1 reference

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Aberrant subcellular localization of peroxisomal 3-ketoacyl-CoA thiolase in the Zellweger syndrome and rhizomelic chondrodysplasia punctata.

30 May 2018

1 reference

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Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome

30 May 2018

1 reference

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Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome

29 November 2018

1 reference

12 December 2020

Immunoblot detection of enzyme proteins of peroxisomal beta-oxidation in fibroblasts, amniocytes, and chorionic villous cells. Possible marker for prenatal diagnosis of Zellweger's syndrome

1 reference

12 December 2020

Adrenoleukodystrophy: impaired oxidation of fatty acids due to peroxisomal lignoceroyl-CoA ligase deficiency

1 reference

12 December 2020

Peroxisomopathies: new developments

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12 December 2020

Cell-free synthesis of the enzymes of peroxisomal beta-oxidation

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12 December 2020

Biosynthesis and intracellular transport of enzymes of peroxisomal beta-oxidation

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12 December 2020

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12 December 2020

Peroxisomal very long-chain fatty acid beta-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders

1 reference

12 December 2020

Biochemical abnormalities in rhizomelic chondrodysplasia punctata

1 reference

12 December 2020

Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids

1 reference

12 December 2020

Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patients

1 reference

12 December 2020