Associated Papers
Whole genome sequencing from dried blood spots for newborn screening of Menkes disease and 36 other actionable inherited neurometabolic disorders.
Kaler SG et al.
Molecular Genetics and Metabolism, 2026
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene.
Mhaske A et al.
Computational and Structural Biotechnology Journal, 2020
Convergent mechanisms favor fast amyloid formation in two lambda 6a Ig light chain mutants.
Valdés-García G et al.
Biopolymers, 2017
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.
Skjørringe T et al.
Scientific Reports, 2017
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
Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.
Kaler SG
Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2014
Modeling Structural Flexibility of Proteins with Go-Models.
Jiang P et al.
Journal of Chemical Theory and Computation, 2012
Structural models of the human copper P-type ATPases ATP7A and ATP7B.
Gourdon P et al.
Biological Chemistry, 2012
Twenty-five novel mutations including duplications in the ATP7A gene.
Moizard MP et al.
Clinical Genetics, 2011
ATP7A-related copper transport diseases-emerging concepts and future trends.
Kaler SG
Nature Reviews. Neurology, 2011
A numerical investigation into possible mechanisms by that the A629P mutant of ATP7A causes Menkes Disease.
Kouza M et al.
Physical Chemistry Chemical Physics : Pccp, 2010
Metal binding domains 3 and 4 of the Wilson disease protein: solution structure and interaction with the copper(I) chaperone HAH1.
Banci L et al.
Biochemistry, 2008
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
de Bie P et al.
Journal of Medical Genetics, 2007
An atomic-level investigation of the disease-causing A629P mutant of the Menkes protein, ATP7A.
Banci L et al.
Journal of Molecular Biology, 2005
Infantile spasms and Menkes disease.
Sfaello I et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2000
A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.
Ronce N et al.
American Journal of Human Genetics, 1997