Associated Papers
Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease.
Martinez-Fierro ML et al.
Genes, 2021
Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15.
Møller LB et al.
Frontiers in Molecular Neuroscience, 2021
ATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis.
Fujisawa C et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2019
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.
Skjørringe T et al.
Scientific Reports, 2017
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.
Tümer Z
Human Mutation, 2013
Mutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice--an animal model of Menkes disease.
Lenartowicz M et al.
Metallomics : Integrated Biometal Science, 2012
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
ATP7A-related copper transport diseases-emerging concepts and future trends.
Kaler SG
Nature Reviews. Neurology, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Amino acid polymorphisms in strictly conserved domains of a P-type ATPase HMA5 are involved in the mechanism of copper tolerance variation in Arabidopsis.
Kobayashi Y et al.
Plant Physiology, 2008
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 copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase.
Kim BE et al.
Journal of Medical Genetics, 2003
Copper-regulated trafficking of the Menkes disease copper ATPase is associated with formation of a phosphorylated catalytic intermediate.
Petris MJ et al.
The Journal of Biological Chemistry, 2002
Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease.
Voskoboinik I et al.
Journal of Bioenergetics and Biomembranes, 2002
Mutation spectrum of ATP7A, the gene defective in Menkes disease.
Tümer Z et al.
Advances in Experimental Medicine and Biology, 1999