Tags

Type your tag names separated by a space and hit enter

Translational research investigations on ATP7A: an important human copper ATPase.
Ann N Y Acad Sci. 2014 May; 1314:64-8.AN

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+Show Affiliations

Section on Translational Neuroscience, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

24735419

Citation

Kaler, Stephen G.. "Translational Research Investigations On ATP7A: an Important Human Copper ATPase." Annals of the New York Academy of Sciences, vol. 1314, 2014, pp. 64-8.
Kaler SG. Translational research investigations on ATP7A: an important human copper ATPase. Ann N Y Acad Sci. 2014;1314:64-8.
Kaler, S. G. (2014). Translational research investigations on ATP7A: an important human copper ATPase. Annals of the New York Academy of Sciences, 1314, 64-8. https://doi.org/10.1111/nyas.12422
Kaler SG. Translational Research Investigations On ATP7A: an Important Human Copper ATPase. Ann N Y Acad Sci. 2014;1314:64-8. PubMed PMID: 24735419.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Translational research investigations on ATP7A: an important human copper ATPase. A1 - Kaler,Stephen G, Y1 - 2014/04/15/ PY - 2014/4/17/entrez PY - 2014/4/17/pubmed PY - 2014/8/1/medline KW - ATP7A KW - Menkes disease KW - human copper metabolism KW - occipital horn syndrome KW - viral gene therapy SP - 64 EP - 8 JF - Annals of the New York Academy of Sciences JO - Ann. N. Y. Acad. Sci. VL - 1314 N2 - 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. SN - 1749-6632 UR - https://www.unboundmedicine.com/medline/citation/24735419/Translational_research_investigations_on_ATP7A:_an_important_human_copper_ATPase_ L2 - https://doi.org/10.1111/nyas.12422 DB - PRIME DP - Unbound Medicine ER -