248 research outputs found
Peroxisomal disorders:An updating
No full textGenetic diseases in man in which peroxisomal functions are impaired may be divided into three categories. A. Diseases in which morphologically distinguishable peroxisomes (defined as catalase-positive particles) are deficient and most peroxisomal functions are impaired. This category comprises the Zellweger syndrome, Infantile Refsum disease and Neonatal Adrenoleukodystrophy. B. Diseases in which catalase-positive particles are present but in which some peroxisomal functions are impaired. The Rhizomelic form of Chondrodysplasia Punctata and the Zellweger-like syndrome belong to this category. C. Diseases in which a single peroxisomal enzyme is deficient. This category includes diseases characterized by a deficiency of one of the following enzymes: peroxisomal very-long-chain acyl-CoA synthetase (X-linked Adrenoleukodystrophy); acyl-CoA oxidase (pseudo-Neonatal Adrenoleukodystrophy); bifunctional protein; peroxisomal 3-oxoacyl-CoA thiolase (Pseudo-Zellweger syndrome); alanine: glyoxylate aminotransferase (Hyperoxaluria type 1); and catalase (Acatalasaemia). It is at present not clear whether adult Refsum disease (deficiency of phytanic acid α-hydroxylase) should be classified as a peroxisomal disorder or not.</p
Peroxisomal disorders:An updating
No full textGenetic diseases in man in which peroxisomal functions are impaired may be divided into three categories. A. Diseases in which morphologically distinguishable peroxisomes (defined as catalase-positive particles) are deficient and most peroxisomal functions are impaired. This category comprises the Zellweger syndrome, Infantile Refsum disease and Neonatal Adrenoleukodystrophy. B. Diseases in which catalase-positive particles are present but in which some peroxisomal functions are impaired. The Rhizomelic form of Chondrodysplasia Punctata and the Zellweger-like syndrome belong to this category. C. Diseases in which a single peroxisomal enzyme is deficient. This category includes diseases characterized by a deficiency of one of the following enzymes: peroxisomal very-long-chain acyl-CoA synthetase (X-linked Adrenoleukodystrophy); acyl-CoA oxidase (pseudo-Neonatal Adrenoleukodystrophy); bifunctional protein; peroxisomal 3-oxoacyl-CoA thiolase (Pseudo-Zellweger syndrome); alanine: glyoxylate aminotransferase (Hyperoxaluria type 1); and catalase (Acatalasaemia). It is at present not clear whether adult Refsum disease (deficiency of phytanic acid α-hydroxylase) should be classified as a peroxisomal disorder or not.</p
Valproate inhibits the mitochondrial pyruvate-driven oxidative phosphorylation in vitro
No full textValproate inhibits the mitochondrial pyruvate-driven oxidative phosphorylation in vitro Silva, M.F.B.; Ruiter, J.P.N.; Ylst, L.; Jakobs, C.; Duran, M.; Talvares de Almeida, I.; Wanders, R.J.A
Function and dysfunction of the mitochondrial and peroxisomal beta-oxidation systems in human cells and their functional interaction
No full textMolecular aspects of Refsum disease and the enzymatic degradation of phytol to phytanic acid
No full text
Link to publication Citation for published version (APA)
No full textUvA-DARE is a service provided by the library of the University of Amsterdam (http://dare.uva.nl) UvA-DARE (Digital Academic Repository) 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene Ofman, R.; Ruiter, J.P.N.; Feenstra, M.; Duran, M.; Poll-The, B-T.; Zschocke, J.; Ensenauer, R.; Lehnert, W.; Sass, J.O.; Sperl, W.; Wanders, R.J.A
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