Associated Papers
Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients.
Lafhal K et al.
Molecular Genetics and Metabolism Reports, 2023
Wilson's Disease-Genetic Puzzles with Diagnostic Implications.
Gromadzka G et al.
Diagnostics (basel, Switzerland), 2023
Case of Early-Onset Parkinson's Disease in a Heterozygous Mutation Carrier of the ATP7B Gene.
Ilyechova EY et al.
Journal of Personalized Medicine, 2019
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Interactions between metal-binding domains modulate intracellular targeting of Cu(I)-ATPase ATP7B, as revealed by nanobody binding.
Huang Y et al.
The Journal of Biological Chemistry, 2014
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
Braiterman LT et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.
Squitti R et al.
Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2014
Linkage disequilibrium and haplotype analysis of the ATP7B gene in Alzheimer's disease.
Squitti R et al.
Rejuvenation Research, 2013
A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.
Schushan M et al.
Metallomics : Integrated Biometal Science, 2012
Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis.
Usta J et al.
Jimd Reports, 2012
Molecular pathology of Wilson's disease: a brief.
Lalioti V et al.
Journal of Hepatology, 2010
Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.
van den Berghe PV et al.
Hepatology (baltimore, Md.), 2009
Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.
Hsi G et al.
Human Mutation, 2008
New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.
Davies LP et al.
Genetic Testing, 2008
Sequence variation database for the Wilson disease copper transporter, ATP7B.
Kenney SM et al.
Human Mutation, 2007
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.
Ferenci P
Human Genetics, 2006
Structure of the ATP binding domain from the Archaeoglobus fulgidus Cu+-ATPase.
Sazinsky MH et al.
The Journal of Biological Chemistry, 2006
Solution structure of the N-domain of Wilson disease protein: distinct nucleotide-binding environment and effects of disease mutations.
Dmitriev O et al.
Proceedings of the National Academy of Sciences of the United States of America, 2006
The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F.
Morgan CT et al.
The Journal of Biological Chemistry, 2004
Molecular modelling of the nucleotide-binding domain of Wilson's disease protein: location of the ATP-binding site, domain dynamics and potential effects of the major disease mutations.
Efremov RG et al.
The Biochemical Journal, 2004