title: Translational research investigations on ATP7A: an important human copper ATPase.
abstract: In more than 40 years since copper deficiency was delineated in pediatric subjects with Menkes disease, remarkable advances in our understanding of the clinical, biochemical, and molecular aspects of the human copper transporter ATP7A have emerged. Mutations in the gene encoding this multitasking molecule are now implicated in at least two other distinctive phenotypes: occipital horn syndrome and ATP7A-related isolated distal motor neuropathy. Several other novel inherited disorders of copper metabolism have been identified in the past several years, aided by advances in human gene mapping and automated DNA sequencing. In this paper, I review the history and evolution of our understanding of disorders caused by impaired ATP7A function, and outline future challenges.
authors.affiliation: Section on Translational Neuroscience, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
authors.forename: Stephen G
authors.initials: SG
authors.lastname: Kaler
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics* / Q000378:metabolism*; D027682:Cation Transport Proteins / Q000235:genetics* / Q000378:metabolism*; D003300:Copper / Q000172:deficiency / Q000378:metabolism*; D000073840:Copper-Transporting ATPases; D003483:Cutis Laxa / Q000235:genetics; D004535:Ehlers-Danlos Syndrome / Q000235:genetics; D018014:Gene Transfer Techniques; D006801:Humans; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics; D008664:Metal Metabolism, Inborn Errors / Q000235:genetics
chemical_list: D027682:Cation Transport Proteins; D003300:Copper; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases
keywords: ATP7A; Menkes disease; human copper metabolism; occipital horn syndrome; viral gene therapy
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