+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Copper transporting P-type ATPases and human disease

, : Copper transporting P-type ATPases and human disease. Journal of Bioenergetics and Biomembranes 34(5): 333-338

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.


PMID: 12539960

Other references

Webster, KA., 1987: Ixodes ricinus, the sheep tick: ecology and disease. Unknown

Goodarzi Fariborz; Skibo D.N.; Embry A.F.; Gentzis Thomas; Stewart K.R., 1990: Origin, organic maturation and petroleum potential of source rocks from the central Sverdrup Basin, Arctic Canada. Program with Abstracts - Geological Association of Canada(Mineralogical Association of Canada(Canadian Geophysical Union, Joint Annual Meeting 15: 49

Mamou, H.; Mamou, J.E.; de Regnault, D.M., 1974: Periodic disease and the Muckle-Wells syndrome. La Nouvelle Presse Medicale 3(21): 1363-1364

Peppelenbosch, A.G.; Vermeulen Windsant, I.C.; Jacobs, M.J.; Tordoir, J.H.M.; Schurink, G.W.H., 2010: Open repair for ruptured abdominal aortic aneurysm and the risk of spinal cord ischemia: review of the literature and risk-factor analysis. Spinal cord ischemia after open surgical repair for rAAA is a rare event. We estimated the current incidence and tried to identify risk factors. We also report a new case. Group A consisted of 10 reports on open repair for rAAA from 1980 until 200...

Broderick, W.E.; Thompson, J.A.; Day, E.P.; Hoffman, B.M., 1990: A Molecular Ferromagnet with a Curie Temperature of 6.2 Kelvin: [Mn(C5(CH3)5)2]+[TCNQ]-. The study of magnetic phase transitions in insulating molecular solids provides new insights into mechanisms of magnetic coupling in the solid state and into critical phenomena associated with these transitions. Only a few such materials are known...

Mairani, A.; Böhlen, T.T.; Schiavi, A.; Tessonnier, T.; Molinelli, S.; Brons, S.; Battistoni, G.; Parodi, K.; Patera, V., 2013: A Monte Carlo-based treatment planning tool for proton therapy. In the field of radiotherapy, Monte Carlo (MC) particle transport calculations are recognized for their superior accuracy in predicting dose and fluence distributions in patient geometries compared to analytical algorithms which are generally used...

Shevyakov, A.V.; Khaskhachikh, E.G., 1994: Effect of the quality of picture on a computer monitor on the dynamics of the functional state of operators. Psychological, physiological and psychophysiological methods were used for experimental evaluation of stress in person without previous experience with using computer monitors. The subjects were presented images intended for operators of automated...

Chalmers, A.H.; Murray, A.W.; Verakalasa, P., 1974: The synthesis and immuno-enhancing activity of 3-butylazathioprine. Advances in Experimental Medicine and Biology 41: 699-704

Outani, H.; Hamada, K.; Imura, Y.; Oshima, K.; Sotobori, T.; Demizu, Y.; Kakunaga, S.; Joyama, S.; Imai, R.; Okimoto, T.; Naka, N.; Kudawara, I.; Ueda, T.; Araki, N.; Kamada, T.; Yoshikawa, H., 2016: Comparison of clinical and functional outcome between surgical treatment and carbon ion radiotherapy for pelvic chondrosarcoma. As there are no reports of studies in patients with pelvic chondrosarcoma treated with carbon ion radiotherapy (CIRT), the aim of this study was to evaluate the applicability of CIRT for patients with chondrosarcoma of the pelvis. The medical reco...

Oluigbo, C.O.; Choudhari, K.A.; Flynn, P.; McConnell, R.S., 2005: Meningioma presenting with transient ischaemic attacks. A case of sphenoid wing meningioma mimicking the presentation of a transient ischaemic attack (TIA) is described. Based on findings from neuroimaging in this case, possible explanations of the mechanism of this uncommon presentation of meningiomas...