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
Mottled Mice and Non-Mammalian Models of Menkes Disease.
Lenartowicz M et al.
Frontiers in Molecular Neuroscience, 2015
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.
Tümer Z
Human Mutation, 2013
ATP7A-related copper transport diseases-emerging concepts and future trends.
Kaler SG
Nature Reviews. Neurology, 2011
Molecular diagnosis of Menkes disease: genotype-phenotype correlation.
Møller LB et al.
Biochimie, 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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