Publications by authors named "Valeria Dessi"
Article Synopsis
- Recent research shows that the Wilson disease (WD) protein specifically interacts with the MURR1 protein, prompting an investigation into the role of MURR1 in WD and similar copper metabolism disorders.
- The study involved genetic analysis of the MURR1 gene in various patient groups, revealing six rare nucleotide substitutions but no significant differences compared to control groups.
- Findings indicate that the MURR1 gene likely does not play a primary role in Wilson disease's development, suggesting the need for further studies with larger patient samples to explore potential roles of these genetic variations.
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism resulting from the absence or dysfunction of a copper transporting P-type ATPase (ATP7B). Approximately 150 mutations of the ATP7B have been identified to date. In this paper, we report the results of molecular characterization and genotype-phenotype analysis, which we have carried out on 35 patients from Yugoslavia affected by WD.
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