Title |
Copper Transporting P-Type ATPases and Human Disease
|
---|---|
Published in |
Journal of Bioenergetics and Biomembranes, October 2002
|
DOI | 10.1023/a:1021293818125 |
Pubmed ID | |
Authors |
Diane W. Cox, Steven D. P. Moore |
Abstract |
Copper transporting P-type ATPases, designated ATP7A and ATP7B, play an essential role in mammalian copper balance. Impaired intestinal transport of copper, resulting from mutations in the ATP7A gene, lead to Menkes disease in humans. Defects in a similar gene, the copper transporting ATPase ATP7B, result in Wilson disease. This ATP7B transporter has two functions: transport of copper into the plasma protein ceruloplasmin, and elimination of copper through the bile. Variants of ATP7B can be functionally assayed to identify defects in each of these functions. Tissue expression studies of the copper ATPases and their copper chaperone ATOX1 indicate that there is not complete overlap in expression. Other chaperones may be important for the transport of copper into ATP7A and ATP7B. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Chile | 1 | 1% |
United States | 1 | 1% |
Unknown | 71 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 21 | 29% |
Professor > Associate Professor | 7 | 10% |
Student > Bachelor | 7 | 10% |
Student > Doctoral Student | 6 | 8% |
Student > Master | 6 | 8% |
Other | 12 | 16% |
Unknown | 14 | 19% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 19 | 26% |
Biochemistry, Genetics and Molecular Biology | 12 | 16% |
Chemistry | 10 | 14% |
Medicine and Dentistry | 5 | 7% |
Pharmacology, Toxicology and Pharmaceutical Science | 3 | 4% |
Other | 6 | 8% |
Unknown | 18 | 25% |