Associated Papers
WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.
Vatsyayan A et al.
Plos One, 2024
38758754 (PubMed )
Supplement: pone.0303787.s016.xlsx › S4table
Human copper transporter ATP7B (Wilson disease protein) forms stable dimers in vitro and in cells.
Jayakanthan S et al.
The Journal of Biological Chemistry, 2017
ATP7B Gene Mutations in Croatian Patients with Wilson Disease.
Ljubić H et al.
Genetic Testing and Molecular Biomarkers, 2016
Involvement of protein kinase D in expression and trafficking of ATP7B (copper ATPase).
Pilankatta R et al.
The Journal of Biological Chemistry, 2011
High yield heterologous expression of wild-type and mutant Cu+-ATPase (ATP7B, Wilson disease protein) for functional characterization of catalytic activity and serine residues undergoing copper-dependent phosphorylation.
Pilankatta R et al.
The Journal of Biological Chemistry, 2009
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