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[From gene to disease: copper-transporting P ATPases alteration].

Pathologie-biologie, 2009
Copper is a trace metal, essential for many biological processes. Copper is also toxic if in excessive amounts; its homeostatic balance requires a delicate regulation. Several severe hereditary human disorders of copper regulatory mechanisms have been identified; they are related to mutations in gene ATP7A and ATP7B coding for copper-transporting ...
C, Garcia Hejl   +3 more
openaire   +1 more source

The Copper-Transporting ATPases Defective in Menkes Disease and Wilson Disease

1996
The identification of genes defective in Menkes disease and in Wilson disease has provided a major breakthrough in our understanding of copper transport. A membrane transport protein is a key factor in the control of intracellular copper concentration.
openaire   +1 more source

Copper chaperones in bacteria: association with copper-transporting ATPases

Trends in Biochemical Sciences, 2000
I.King Jordan   +2 more
openaire   +1 more source

Molecular Architecture of the Copper-Transporting ATPase ATP7B

2019
Svetlana Lutsenko   +2 more
openaire   +1 more source

Copper transporting atpases: Function and regulation of genetic expression

Journal of Inorganic Biochemistry, 1997
E.D. Harris, M.C.M. Reddy, Y. Qian
openaire   +1 more source

Independent Evolution of Heavy Metal-Associated Domains in Copper Chaperones and Copper-Transporting ATPases

Journal of Molecular Evolution, 2014
I KING Jordan   +2 more
exaly  

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