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Genetic disorders of membrane transport. IV. Wilson's disease and Menkes disease.
Am J Physiol. 1999 02; 276(2):G311-4.AJ

Abstract

Copper is an essential transition metal that permits the facile transfer of electrons in a series of critical biochemical pathways. Menkes disease and Wilson's disease are inherited disorders of copper metabolism resulting from the absence or dysfunction of homologous copper-transporting ATPases that reside in the trans-Golgi network of all cells. Despite striking differences in the clinical presentation of these two diseases, the respective ATPases function in precisely the same manner within the cell and the unique clinical features of each disease are entirely the result of the tissue-specific expression of each protein. Elucidation of the basic defect in these rare genetic disorders has provided a valuable heuristic paradigm for understanding the mechanisms of cellular copper homeostasis.

Authors+Show Affiliations

Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.No affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

9950803

Citation

Schaefer, M, and J D. Gitlin. "Genetic Disorders of Membrane Transport. IV. Wilson's Disease and Menkes Disease." The American Journal of Physiology, vol. 276, no. 2, 1999, pp. G311-4.
Schaefer M, Gitlin JD. Genetic disorders of membrane transport. IV. Wilson's disease and Menkes disease. Am J Physiol. 1999;276(2):G311-4.
Schaefer, M., & Gitlin, J. D. (1999). Genetic disorders of membrane transport. IV. Wilson's disease and Menkes disease. The American Journal of Physiology, 276(2), G311-4. https://doi.org/10.1152/ajpgi.1999.276.2.G311
Schaefer M, Gitlin JD. Genetic Disorders of Membrane Transport. IV. Wilson's Disease and Menkes Disease. Am J Physiol. 1999;276(2):G311-4. PubMed PMID: 9950803.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic disorders of membrane transport. IV. Wilson's disease and Menkes disease. AU - Schaefer,M, AU - Gitlin,J D, PY - 1999/2/10/pubmed PY - 1999/2/10/medline PY - 1999/2/10/entrez SP - G311 EP - 4 JF - The American journal of physiology JO - Am. J. Physiol. VL - 276 IS - 2 N2 - Copper is an essential transition metal that permits the facile transfer of electrons in a series of critical biochemical pathways. Menkes disease and Wilson's disease are inherited disorders of copper metabolism resulting from the absence or dysfunction of homologous copper-transporting ATPases that reside in the trans-Golgi network of all cells. Despite striking differences in the clinical presentation of these two diseases, the respective ATPases function in precisely the same manner within the cell and the unique clinical features of each disease are entirely the result of the tissue-specific expression of each protein. Elucidation of the basic defect in these rare genetic disorders has provided a valuable heuristic paradigm for understanding the mechanisms of cellular copper homeostasis. SN - 0002-9513 UR - https://www.unboundmedicine.com/medline/citation/9950803/Genetic_disorders_of_membrane_transport__IV__Wilson's_disease_and_Menkes_disease_ L2 - http://journals.physiology.org/doi/full/10.1152/ajpgi.1999.276.2.G311?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -