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
Metal-Dependent Regulation of ATP7A and ATP7B in Fibroblast Cultures.
Lenartowicz M et al.
Frontiers in Molecular Neuroscience, 2016
Copper mediated neurological disorder: visions into amyotrophic lateral sclerosis, Alzheimer and Menkes disease.
Ahuja A et al.
Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2015
ATP7A-related copper transport diseases-emerging concepts and future trends.
Kaler SG
Nature Reviews. Neurology, 2011
A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease.
Park HD et al.
Annals of Clinical and Laboratory Science, 2009
Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.
Møller LB et al.
Human Mutation, 2005
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