Associated Papers
Novel ATP7A gene mutation in a patient with Menkes disease.
Caicedo-Herrera G et al.
The Application of Clinical Genetics, 2018
A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.
Tümer Z et al.
Clinical Genetics, 2017
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.
Skjørringe T et al.
Scientific Reports, 2017
The mild form of menkes disease: a 34 year progress report on the original case.
Tchan MC et al.
Jimd Reports, 2013
The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.
Vonk WI et al.
Cellular and Molecular Life Sciences : Cmls, 2012
Molecular diagnosis of Menkes disease: genotype-phenotype correlation.
Møller LB et al.
Biochimie, 2009
Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.
Donsante A et al.
Journal of Medical Genetics, 2007
Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.
Møller LB et al.
Human Mutation, 2005
Intracellular trafficking of the human Wilson protein: the role of the six N-terminal metal-binding sites.
Cater MA et al.
The Biochemical Journal, 2004
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