Expression of the Wilson disease gene is deficient...[Biochem J. 1994]

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1: Biochem J. 1994 Jul 1;301 ( Pt 1):1-4. Links

Expression of the Wilson disease gene is deficient in the Long-Evans Cinnamon rat.

Yamaguchi Y, Heiny ME, Shimizu N, Aoki T, Gitlin JD.

Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110.

Long-Evans Cinnamon rats develop a necrotizing hepatitis characterized by excessive hepatic copper accumulation, defective holoceruloplasmin biosynthesis and impaired biliary copper excretion. To elucidate the molecular basis of this defect, a cDNA clone encoding the rat Wilson disease gene was isolated and used to examine gene expression in selected tissues from normal and Long-Evans Cinnamon rats. Although this cDNA readily detects Wilson transcripts in liver and other tissues from normal rats, such transcripts are entirely absent from tissues derived from the Long-Evans Cinnamon rat strain. These data therefore identify the Long-Evans Cinnamon rat as the first bona fide animal model of Wilson disease and suggest that this rat strain may be a valuable resource in the study of this genetic disorder.

PMID: 8037655 [PubMed - indexed for MEDLINE]

PMCID: PMC1137132

The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene.
Nat Genet. 1994 Aug; 7(4):541-5.

[Nat Genet. 1994]
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.
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[Nat Genet. 1993]
ReviewPhysiologic function of the Wilson disease gene product, ATP7B.
Am J Clin Nutr. 1998 May; 67(5 Suppl):982S-987S.

[Am J Clin Nutr. 1998]
ReviewGenetic and molecular basis for copper toxicity.
Am J Clin Nutr. 1996 May; 63(5):836S-41S.

[Am J Clin Nutr. 1996]
Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase.
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[Hum Mol Genet. 2001]
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Cited by 3 PubMed Central articles

ReviewACP Best Practice No 163. Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring.
Gaffney D, Fell GS, O'Reilly DS. J Clin Pathol. 2000 Nov; 53(11):807-12.

[J Clin Pathol. 2000]
Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.
Payne AS, Kelly EJ, Gitlin JD. Proc Natl Acad Sci U S A. 1998 Sep 1; 95(18):10854-9.

[Proc Natl Acad Sci U S A. 1998]
Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.
Harris ZL, Takahashi Y, Miyajima H, Serizawa M, MacGillivray RT, Gitlin JD. Proc Natl Acad Sci U S A. 1995 Mar 28; 92(7):2539-43.

[Proc Natl Acad Sci U S A. 1995]

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Cited by 3 PubMed Central articles

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