Associated Papers
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.
Skjørringe T et al.
Scientific Reports, 2017
In Vivo Modeling of the Pathogenic Effect of Copper Transporter Mutations That Cause Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease.
Mercer SW et al.
The Journal of Biological Chemistry, 2017
ATP7A-related copper transport diseases-emerging concepts and future trends.
Kaler SG
Nature Reviews. Neurology, 2011
Functional copper transport explains neurologic sparing in occipital horn syndrome.
Tang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Mutation spectrum of ATP7A, the gene defective in Menkes disease.
Tümer Z et al.
Advances in Experimental Medicine and Biology, 1999
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