Literature DB >> 6820421

Cell genetic studies on propionyl-CoA carboxylase deficient cell lines.

G H Van Leeuwen, G De Vrieze, J A Gimpel, H J Huisjes, F A Hommes.   

Abstract

Thirteen propionyl-CoA carboxylase (PCC)-deficient fibroblast lines were analysed for complementation by examining the incorporation of [14C]propionate into trichloroacetic-acid insoluble cellular macromolecules of polyethylene-glycol-dimethyl-sulphoxide induced heterokaryons formed by fusion of mutant cell lines. Corrections for variations in the rate of protein synthesis of the heterokaryons and individual cell lines was made by measuring the incorporation of [3H]lysine, added simultaneously with the labelled propionate. Two distinct complementation groups were found in this sample of PCC-deficient cell lines. Evidence for intragenic complementation was not obtained.

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Year:  1982        PMID: 6820421     DOI: 10.1007/bf01800004

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


  19 in total

1.  Propionyl-CoA-carboxylase determination: study of enzyme parameters in cultured skin fibroblasts from enzyme-deficient and normal subjects.

Authors:  P Divry; M O Rolland; N Dingeon; M Mathieu; J Cotte; P Guibaud
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

2.  Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.

Authors:  R A Gravel; K F Lam; K J Scully; Y Hsia
Journal:  Am J Hum Genet       Date:  1977-07       Impact factor: 11.025

3.  Genetic complementation after fusion of Tay-Sachs and Sandhoff cells.

Authors:  G H Thomas; H A Taylor; C S Miller; J Axelman; B R Migeon
Journal:  Nature       Date:  1974-08-16       Impact factor: 49.962

4.  A microassay for argininosuccinase in cultured cells.

Authors:  L B Jacoby; J W Littlefield; A Milunsky; V E Shih; R S Wilroy
Journal:  Am J Hum Genet       Date:  1972-05       Impact factor: 11.025

5.  Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia".

Authors:  Y E Hsia; K J Scully; L E Rosenberg
Journal:  J Clin Invest       Date:  1971-01       Impact factor: 14.808

6.  [Propionicacidemia. A report on two cases (author's transl)].

Authors:  J Costil; A Debard; A Guilhaume; C Charpentier; J L Pousset; H E Brissaud
Journal:  Ann Pediatr (Paris)       Date:  1979-05

7.  Isolation and characterization of propionyl-CoA carboxylase from normal human liver. Evidence for a protomeric tetramer of nonidentical subunits.

Authors:  F Kalousek; M D Darigo; L E Rosenberg
Journal:  J Biol Chem       Date:  1980-01-10       Impact factor: 5.157

8.  Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts.

Authors:  M Saunders; L Sweetman; B Robinson; K Roth; R Cohn; R A Gravel
Journal:  J Clin Invest       Date:  1979-12       Impact factor: 14.808

9.  Polyethylene glycol-induced mammalian cell hybridization: effect of polyethylene glycol molecular weight and concentration.

Authors:  R L Davidson; K A O'Malley; T B Wheeler
Journal:  Somatic Cell Genet       Date:  1976-05

10.  Prenatal diagnosis of xeroderma pigmentosum (group C) using assays of unscheduled DNA synthesis and postreplication repair.

Authors:  D J Halley; W Keijzer; N G Jaspers; M F Niermeijer; W J Kleijer; J Boué; A Boué; D Bootsma
Journal:  Clin Genet       Date:  1979-09       Impact factor: 4.438

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  1 in total

1.  Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.

Authors:  B Dubiel; C Dabrowski; R Wetts; K Tanaka
Journal:  J Clin Invest       Date:  1983-11       Impact factor: 14.808

  1 in total

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