| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
British Medical Bulletin 55:544-555 (1999)
© 1999 The British Council
research-article |
Disorders of copper transport
Department of Medical Genetics, University of Alberta Edmonton, Alberta, Canada
Prof. Diane W Cox, Department of Medical Genetics, 839 Medical Sciences Building, University of Alberta, Edmonton, Alberta T6G 2H7, Canada
Abstract
Copper is an essential component of a number of important enzymes. Efficient systems have developed for providing sufficient copper for essential functions, while eliminating excess to avoid tissue toxicity. Copper transport is disrupted in two human diseases: Wilson disease and Menkes disease. Both have defects in copper transporting membrane proteins. Many other proteins are involved in copper transport. Some of these proteins have been identified through a study of the similar copper pathway in yeast. This suggests other copper transport diseases are yet to be discovered. Molecular diagnosis holds promise for reliable diagnosis of patients. Testing of flanking markers is a reliable way to detect presymptomatic sibs of a definite patient.
![]()
CiteULike
Connotea
Del.icio.us What's this?
This article has been cited by other articles:
![]() |
N. R. Zerounian, C. Redekosky, R. Malpe, and M. C. Linder Regulation of copper absorption by copper availability in the Caco-2 cell intestinal model Am J Physiol Gastrointest Liver Physiol, May 1, 2003; 284(5): G739 - G747. [Abstract] [Full Text] [PDF] |
||||
![]() |
I.D. de Wolf, A.C.M. Bonne, X.M. Fielmich-Bouman, B.A. van Oost, A.C. Beynen, L.F.M. van Zutphen, and H.A. van Lith Quantitative Trait Loci Influencing Hepatic Copper in Rats Experimental Biology and Medicine, July 1, 2002; 227(7): 529 - 534. [Abstract] [Full Text] [PDF] |
||||
![]() |
B. Zhang, D. Egli, O. Georgiev, and W. Schaffner The Drosophila Homolog of Mammalian Zinc Finger Factor MTF-1 Activates Transcription in Response to Heavy Metals Mol. Cell. Biol., July 15, 2001; 21(14): 4505 - 4514. [Abstract] [Full Text] [PDF] |
||||
![]() |
N. C. Andrews Mining copper transport genes PNAS, June 5, 2001; 98(12): 6543 - 6545. [Full Text] [PDF] |
||||
![]() |
M. Landriscina, C. Bagala, A. Mandinova, R. Soldi, I. Micucci, S. Bellum, I. Prudovsky, and T. Maciag Copper Induces the Assembly of a Multiprotein Aggregate Implicated in the Release of Fibroblast Growth Factor 1 in Response to Stress J. Biol. Chem., June 29, 2001; 276(27): 25549 - 25557. [Abstract] [Full Text] [PDF] |
||||




