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Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases.
J Biol Chem. 1998 Nov 20; 273(47):31375-80.JB

Abstract

Menkes' disease is a fatal, X-linked, copper deficiency disorder that results from defective copper efflux from intestinal cells and inadequate copper delivery to other tissues, leading to deficiencies of critical copper-dependent enzymes. Wilson's disease is an autosomally inherited, copper toxicosis disorder resulting from defective biliary excretion of copper, which leads to copper accumulation in the liver. The ATP7A and ATP7B genes that are defective in patients with Menkes' and Wilson's diseases, respectively, encode transmembrane, P-type ATPase proteins (ATP7A or MNK and ATP7B or WND, respectively) that function to translocate copper across cellular membranes. In this study, the cDNAs derived from a normal human ATP7A gene and the murine ATP7B homologue, Atp7b, were separately transfected into an immortalized fibroblast cell line obtained from a Menkes' disease patient. Both MNK and WND expressed from plasmid constructs were able to correct the copper accumulation and copper retention phenotype of these cells. However, the two proteins responded differently to elevated extracellular copper levels. Although MNK showed copper-induced trafficking from the trans-Golgi network to the plasma membrane, in the same cell line the intracellular location of WND did not appear to be affected by elevated copper.

Authors+Show Affiliations

The Murdoch Institute Royal Children's Hospital, Parkville 3052, Australia.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

9813047

Citation

La Fontaine, S L., et al. "Correction of the Copper Transport Defect of Menkes Patient Fibroblasts By Expression of the Menkes and Wilson ATPases." The Journal of Biological Chemistry, vol. 273, no. 47, 1998, pp. 31375-80.
La Fontaine SL, Firth SD, Camakaris J, et al. Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases. J Biol Chem. 1998;273(47):31375-80.
La Fontaine, S. L., Firth, S. D., Camakaris, J., Englezou, A., Theophilos, M. B., Petris, M. J., Howie, M., Lockhart, P. J., Greenough, M., Brooks, H., Reddel, R. R., & Mercer, J. F. (1998). Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases. The Journal of Biological Chemistry, 273(47), 31375-80.
La Fontaine SL, et al. Correction of the Copper Transport Defect of Menkes Patient Fibroblasts By Expression of the Menkes and Wilson ATPases. J Biol Chem. 1998 Nov 20;273(47):31375-80. PubMed PMID: 9813047.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases. AU - La Fontaine,S L, AU - Firth,S D, AU - Camakaris,J, AU - Englezou,A, AU - Theophilos,M B, AU - Petris,M J, AU - Howie,M, AU - Lockhart,P J, AU - Greenough,M, AU - Brooks,H, AU - Reddel,R R, AU - Mercer,J F, PY - 1998/11/13/pubmed PY - 1998/11/13/medline PY - 1998/11/13/entrez SP - 31375 EP - 80 JF - The Journal of biological chemistry JO - J Biol Chem VL - 273 IS - 47 N2 - Menkes' disease is a fatal, X-linked, copper deficiency disorder that results from defective copper efflux from intestinal cells and inadequate copper delivery to other tissues, leading to deficiencies of critical copper-dependent enzymes. Wilson's disease is an autosomally inherited, copper toxicosis disorder resulting from defective biliary excretion of copper, which leads to copper accumulation in the liver. The ATP7A and ATP7B genes that are defective in patients with Menkes' and Wilson's diseases, respectively, encode transmembrane, P-type ATPase proteins (ATP7A or MNK and ATP7B or WND, respectively) that function to translocate copper across cellular membranes. In this study, the cDNAs derived from a normal human ATP7A gene and the murine ATP7B homologue, Atp7b, were separately transfected into an immortalized fibroblast cell line obtained from a Menkes' disease patient. Both MNK and WND expressed from plasmid constructs were able to correct the copper accumulation and copper retention phenotype of these cells. However, the two proteins responded differently to elevated extracellular copper levels. Although MNK showed copper-induced trafficking from the trans-Golgi network to the plasma membrane, in the same cell line the intracellular location of WND did not appear to be affected by elevated copper. SN - 0021-9258 UR - https://www.unboundmedicine.com/medline/citation/9813047/Correction_of_the_copper_transport_defect_of_Menkes_patient_fibroblasts_by_expression_of_the_Menkes_and_Wilson_ATPases_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0021-9258(19)59165-7 DB - PRIME DP - Unbound Medicine ER -