Literature DB >> 6137594

Mutations in humans and animals which affect copper metabolism.

J Camakaris, M Phillips, D M Danks, R Brown, T Stevenson.   

Abstract

Various inherited disorders of copper metabolism in man and animals are reviewed. Emphasis is placed on the use of cultured cells from mutants to determine the primary molecular defects and to acquire basic knowledge of normal copper metabolism. This allows better diagnostic tests and possible treatment of the disorders. Menkes' disease in humans and mottled mouse mutants are discussed in detail, as they illustrate these approaches.

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Year:  1983        PMID： 6137594     DOI： 10.1007/bf01811323

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


  40 in total

1.  Degradation of 35S-labeled metallothionein in the liver and the kidney of brindled mice: model for Menkes' disease.

Authors:  H W Prins; C J Van den Hamer
Journal:  Life Sci       Date:  1981-06-29       Impact factor: 5.037

2.  Genetic expression of Wilson's disease in cell culture: a diagnostic marker.

Authors:  W Y Chan; W Cushing; M A Coffman; O M Rennert
Journal:  Science       Date:  1980-04-18       Impact factor: 47.728

3.  Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder.

Authors:  H Kuivaniemi; L Peltonen; A Palotie; I Kaitila; K I Kivirikko
Journal:  J Clin Invest       Date:  1982-03       Impact factor: 14.808

4.  Copper metabolism in mottled mouse mutants: copper concentrations in tissues during development.

Authors:  J Camakaris; J R Mann; D M Danks
Journal:  Biochem J       Date:  1979-06-15       Impact factor: 3.857

5.  Copper metabolism in mottled mouse mutants: copper therapy of brindled (Mobr) mice.

Authors:  J R Mann; J Camakaris; D M Danks; E G Walliczek
Journal:  Biochem J       Date:  1979-06-15       Impact factor: 3.857

6.  Hepatic lysosomal copper protein in dogs with an inherited copper toxicosis.

Authors:  G F Johnson; A G Morell; R J Stockert; I Sternlieb
Journal:  Hepatology       Date:  1981 May-Jun       Impact factor: 17.425

7.  Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants.

Authors:  J Camakaris; D M Danks; L Ackland; E Cartwright; P Borger; R G Cotton
Journal:  Biochem Genet       Date:  1980-02       Impact factor: 1.890

8.  Menkes X linked disease: two clonal cell populations in heterozygotes.

Authors:  N Horn; P Mooy; V M McGuire
Journal:  J Med Genet       Date:  1980-08       Impact factor: 6.318

9.  Abnormal copper-thionein synthesis and impaired copper utilization in mutated brindled mice: model for Menkes' disease.

Authors:  H W Prins; J A Van den Hamer
Journal:  J Nutr       Date:  1980-01       Impact factor: 4.798

10.  Increased copper metallothionein in Menkes cultured skin fibroblasts.

Authors:  G U Labadie; K Hirschhorn; S Katz; N G Beratis
Journal:  Pediatr Res       Date:  1981-03       Impact factor: 3.756
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  4 in total

Review 1.  Some nutritional aspects of trace metals.

Authors:  P J Aggett; N T Davies
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

2.  Strain differences in kidney copper concentrations of male rats.

Authors:  H Nederbragt; L F van Zutphen
Journal:  Biol Trace Elem Res       Date:  1987-12       Impact factor: 3.738

3.  A comparison of phenotype and copper distribution in blotchy and brindled mutant mice and in nutritionally copper deficient controls.

Authors:  M Phillips; J Camakaris; D M Danks
Journal:  Biol Trace Elem Res       Date:  1991-04       Impact factor: 3.738

4.  Decreased activity of cytochrome c oxidase in the macular mottled mouse: an immuno-electron microscopic study.

Authors:  K Seki; T Sato; Y Ishigaki; S Nakamura; Y Ishihara; T Ozawa
Journal:  Acta Neuropathol       Date:  1989       Impact factor: 17.088
  4 in total

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