Literature DB >> 7592568

Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria.

B Grandchamp1, J Lamoril, H Puy.   

Abstract

Genetic defects of coproporphyrinogen oxidase (CPO) lead to hereditary coproporphyria, an inherited autosomal dominant porphyria. The recent cloning of human cDNAs and of the gene encoding CPO permits deducing the primary structure of the CPO protein and elucidating the molecular basis of HC in some families.

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Year:  1995        PMID： 7592568     DOI： 10.1007/BF02110036

Source DB:  PubMed          Journal:  J Bioenerg Biomembr        ISSN： 0145-479X            Impact factor:   2.945


  19 in total

1.  Compilation of vertebrate-encoded transcription factors.

Authors:  S Faisst; S Meyer
Journal:  Nucleic Acids Res       Date:  1992-01-11       Impact factor: 16.971

2.  Two tissue-specific factors bind the erythroid promoter of the human porphobilinogen deaminase gene.

Authors:  V Mignotte; L Wall; E deBoer; F Grosveld; P H Romeo
Journal:  Nucleic Acids Res       Date:  1989-01-11       Impact factor: 16.971

3.  Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs.

Authors:  M Kozak
Journal:  Nucleic Acids Res       Date:  1984-01-25       Impact factor: 16.971

4.  Harderoporphyria: a variant hereditary coproporphyria.

Authors:  Y Nordmann; B Grandchamp; H de Verneuil; L Phung; B Cartigny; G Fontaine
Journal:  J Clin Invest       Date:  1983-09       Impact factor: 14.808

5.  Evidence that the coproporphyrinogen oxidase activity of rat liver is situated in the intermembrane space of mitochondria.

Authors:  G H Elder; J O Evans
Journal:  Biochem J       Date:  1978-05-15       Impact factor: 3.857

6.  Purification and properties of mouse liver coproporphyrinogen oxidase.

Authors:  M Bogard; J M Camadro; Y Nordmann; P Labbe
Journal:  Eur J Biochem       Date:  1989-05-01

7.  Purification and properties of coproporphyrinogen oxidase from the yeast Saccharomyces cerevisiae.

Authors:  J M Camadro; H Chambon; J Jolles; P Labbe
Journal:  Eur J Biochem       Date:  1986-05-02

8.  An oxygen-dependent coproporphyrinogen oxidase encoded by the hemF gene of Salmonella typhimurium.

Authors:  K Xu; T Elliott
Journal:  J Bacteriol       Date:  1993-08       Impact factor: 3.490

9.  Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.

Authors:  P Martasek; Y Nordmann; B Grandchamp
Journal:  Hum Mol Genet       Date:  1994-03       Impact factor: 6.150

10.  Coproporphyrinogen oxidase: gene organization and description of a mutation leading to exon 6 skipping.

Authors:  M H Delfau-Larue; P Martasek; B Grandchamp
Journal:  Hum Mol Genet       Date:  1994-08       Impact factor: 6.150
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  4 in total

Review 1.  Hepatic porphyrias in children.

Authors:  G H Elder
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

Review 2.  [Hepatic porphyrias and alcohol].

Authors:  M O Doss; A Kühnel; U Gross; I Sieg
Journal:  Med Klin (Munich)       Date:  1999-06-15

3.  A molecular, enzymatic and clinical study in a family with hereditary coproporphyria.

Authors:  U Gross; H Puy; U Meissauer; J Lamoril; J C Deybach; M Doss; Y Nordmann; M O Doss
Journal:  J Inherit Metab Dis       Date:  2002-08       Impact factor: 4.982

Review 4.  The role of genetic polymorphisms in environmental health.

Authors:  Samir N Kelada; David L Eaton; Sophia S Wang; Nathaniel R Rothman; Muin J Khoury
Journal:  Environ Health Perspect       Date:  2003-06       Impact factor: 9.031
  4 in total

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