ArticleJournal of inherited metabolic disease1995
Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients.
Article in Journal of inherited metabolic disease, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 32 citations in OpenAlex.
- Visualisation of peroxisomes: a journey through seven decades.Histochemistry and cell biology · 2026Review
- Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.American journal of human genetics · 2017Article
- The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders.Journal of inherited metabolic disease · 2016Review
- Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.Orphanet journal of rare diseases · 2013Article
- A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.Journal of human genetics · 2007Article
- 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.American journal of human genetics · 2003Article
- A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.American journal of human genetics · 2002Article
- A new peroxisomal beta-oxidation disorder in twin neonates: defective oxidation of both cerotic and pristanic acids.Journal of inherited metabolic disease · 1997Article
- Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings.European journal of pediatrics · 1996Article
- Immunocytochemical localization of peroxisomal proteins in human liver and kidney.Journal of inherited metabolic disease · 1995Article
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Identification of a patient as suffering from a peroxisomal disorder usually starts by the finding of elevated very long-chain fatty acids in plasma and/or serum. This is followed by more detailed studies in blood, fibroblasts and tissues, including immunoblot analysis. Indeed, immunoblot analysis has become a valuable tool in the correct diagnosis and assignment of individual patients, except for X-linked adrenoleukodystrophy (X-ALD). We describe a simple immunoblotting procedure applicable to liver and fibroblast homo-genates using antibodies raised against catalase and the three beta-oxidation enzyme proteins acyl-CoA oxidase I, bifunctional protein and peroxisomal thiolase. The same procedure can also be used for chorionic villus biopsy specimens and has now become the method of choice for the prenatal diagnosis of Zellweger syndrome (and other disorders of peroxisome biogenesis) and rhizomelic chondrodysplasia punctata.
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