Associated Papers
ATP7A-related copper transport diseases-emerging concepts and future trends.
Kaler SG
Nature Reviews. Neurology, 2011
Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.
Tang J et al.
Molecular Genetics and Metabolism, 2008
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
de Bie P et al.
Journal of Medical Genetics, 2007
Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis.
La Fontaine S et al.
Archives of Biochemistry and Biophysics, 2007
Cell biology of membrane trafficking in human disease.
Howell GJ et al.
International Review of Cytology, 2006
Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.
Møller LB et al.
Human Mutation, 2005
A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation.
Kim BE et al.
The Journal of Biological Chemistry, 2002
[Pharmacological chaperones: a potential therapeutic treatment for conformational diseases].
Mendre C et al.
Medecine Sciences : M/s, 0
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