Literature DB >> 9053559

Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells.

R J Wanders1, R Ofman, G J Romeijn, R B Schutgens, P A Mooijer, C Dekker, H van den Bosch.   

Abstract

Dihydroxyacetone-phosphate acyltransferase (DHAPAT) is a peroxisomal enzyme catalysing the first step in ether-phospholipid biosynthesis. DHAPAT is deficient in cells from patients suffering from a variety of peroxisomal disorders. Accurate measurement of the activity of this enzyme is of great importance, especially since it is a central parameter in the prenatal diagnosis of the disorders of peroxisome biogenesis, rhizomelic chondrodysplasia punctata and DHAPAT-deficiency. We describe a straightforward and accurate assay allowing the activity of DHAPAT to be measured reliably in chorionic villus samples, blood cells, cultured skin fibroblasts, cultured chorionic villus fibroblasts and cultured amniocytes.

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Year:  1995        PMID： 9053559     DOI： 10.1007/bf00711432

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  40 in total

1.  First prenatal diagnosis of acyl-CoA oxidase deficiency.

Authors:  R J Wanders; A Schelen; N Feller; R B Schutgens; F Stellaard; C Jakobs; B Mitulla; G Seidlitz
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2.  A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activities.

Authors:  R J Wanders; C W van Roermund; A Schelen; R B Schutgens; J M Tager; J B Stephenson; P T Clayton
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Review 3.  Prenatal and perinatal diagnosis of peroxisomal disorders.

Authors:  R B Schutgens; G Schrakamp; R J Wanders; H S Heymans; J M Tager; H van den Bosch
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

4.  Properties of guinea pig liver peroxisomal dihydroxyacetone phosphate acyltransferase.

Authors:  C L Jones; A K Hajra
Journal:  J Biol Chem       Date:  1980-09-10       Impact factor: 5.157

5.  Glycerolipid biosynthesis in peroxisomes via the acyl dihydroxyacetone phosphate pathway.

Authors:  A K Hajra; J E Bishop
Journal:  Ann N Y Acad Sci       Date:  1982       Impact factor: 5.691

6.  Deficiency of acyl-CoA:dihydroxyacetone phosphate acyltransferase in thrombocytes of Zellweger patients: a simple postnatal diagnostic test.

Authors:  R J Wanders; G van Weringh; G Schrakamp; J M Tager; H van den Bosch; R B Schutgens
Journal:  Clin Chim Acta       Date:  1985-10-15       Impact factor: 3.786

7.  Peroxisomal bifunctional enzyme deficiency.

Authors:  P A Watkins; W W Chen; C J Harris; G Hoefler; S Hoefler; D C Blake; A Balfe; R I Kelley; A B Moser; M E Beard
Journal:  J Clin Invest       Date:  1989-03       Impact factor: 14.808

8.  Stereochemical specificity of the biosynthesis of the alkyl ether bond in alkyl ether lipids.

Authors:  P A Davis; A K Hajra
Journal:  J Biol Chem       Date:  1979-06-10       Impact factor: 5.157

9.  Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal beta-oxidation.

Authors:  L Van Maldergem; M Espeel; R J Wanders; F Roels; P Gerard; E Scalais; G P Mannaerts; M Casteels; Y Gillerot
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Authors:  S Naidu; G Hoefler; P A Watkins; W W Chen; A B Moser; S Hoefler; N E Rance; J M Powers; M Beard; W R Green
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  9 in total

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Journal:  Am J Hum Genet       Date:  2002-02-28       Impact factor: 11.025

5.  Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings.

Authors:  H Hebestreit; R J Wanders; R B Schutgens; M Espeel; I Kerckaert; F Roels; B Schmausser; L Schrod; A Marx
Journal:  Eur J Pediatr       Date:  1996-12       Impact factor: 3.183

6.  Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome.

Authors:  F Mochel; A-G Grébille; A Benachi; J Martinovic; F Razavi; D Rabier; I Simon; N Boddaert; F Brunelle; P Sonigo
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7.  Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels.

Authors:  Maria João Nabais Sá; Júlio C Rocha; Manuela F Almeida; Carla Carmona; Esmeralda Martins; Vasco Miranda; Miguel Coutinho; Rita Ferreira; Sara Pacheco; Francisco Laranjeira; Isaura Ribeiro; Ana Maria Fortuna; Lúcia Lacerda
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8.  The neurology of rhizomelic chondrodysplasia punctata.

Authors:  Annemieke M Bams-Mengerink; Johannes Htm Koelman; Hans Waterham; Peter G Barth; Bwee Tien Poll-The
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9.  Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

Authors:  Kevin Berendse; Marc Engelen; Sacha Ferdinandusse; Charles B L M Majoie; Hans R Waterham; Frédéric M Vaz; Johannes H T M Koelman; Peter G Barth; Ronald J A Wanders; Bwee Tien Poll-The
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  9 in total

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