Literature DB >> 3939532

Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts.

C Augereau, D Pham Dinh, A Moncion, C Marsac, J M Saudubray, B H Robinson.   

Abstract

Pyruvate carboxylase (PC) deficiencies (McKusick 26615) are heterogeneous clinically and biochemically. We performed a complementation study with fibroblast strains from seven patients, (four patients with "French" phenotype, two patients with "American" phenotype, one patient with biotin responsive multiple carboxylase deficiency, MCD). The six isolated pyruvate carboxylase mutants (two cross-reacting material CRM -ve and four CRM +ve) failed to complement each other, but did complement a form of biotin responsive MCD.

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Year:  1985        PMID： 3939532     DOI： 10.1007/bf01801665

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


  25 in total

1.  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

2.  Phosphoenolpyruvate carboxykinase and pyruvate carboxylase in developing rat liver.

Authors:  F J Ballard; R W Hanson
Journal:  Biochem J       Date:  1967-09       Impact factor: 3.857

3.  Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency.

Authors:  F X Coude; H Ogier; C Marsac; A Munnich; C Charpentier; J M Saudubray
Journal:  Pediatrics       Date:  1981-12       Impact factor: 7.124

4.  Prenatal diagnosis of pyruvate carboxylase deficiency.

Authors:  C Marsac; C Augereau; G Feldman; B Wolf; T L Hansen; R Berger
Journal:  Clin Chim Acta       Date:  1982-02-26       Impact factor: 3.786

5.  Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.

Authors:  L Cathelineau; D Pham Dinh; P Briand; P Kamoun
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency.

Authors:  G L Feldman; B Wolf
Journal:  Clin Chim Acta       Date:  1981-04-09       Impact factor: 3.786

7.  Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.

Authors:  B J Burri; L Sweetman; W L Nyhan
Journal:  J Clin Invest       Date:  1981-12       Impact factor: 14.808

8.  Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.

Authors:  G L Feldman; Y E Hsia; B Wolf
Journal:  Am J Hum Genet       Date:  1981-09       Impact factor: 11.025

9.  [3H]biotin-labeled proteins in cultured human skin fibroblasts from patients with pyruvate carboxylase deficiency.

Authors:  B H Robinson; J Oei; M Saunders; R Gravel
Journal:  J Biol Chem       Date:  1983-05-25       Impact factor: 5.157

10.  The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis.

Authors:  B H Robinson; J Taylor; W G Sherwood
Journal:  Pediatr Res       Date:  1980-08       Impact factor: 3.756
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  1 in total

1.  A case of benign pyruvate carboxylase deficiency with normal development.

Authors:  J Hamilton; M D Rae; R W Logan; P H Robinson
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982
  1 in total

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