Article
Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.
Scientific reports - 10 Aug 2020
Roy Shubhrajit, McCann Courtney J, Ralle Martina, Ray Kunal, Ray Jharna, Lutsenko Svetlana, Jayakanthan Samuel
Abstract excerpt
Wilson disease (WD) is an autosomal-recessive disorder caused by mutations in the copper (Cu)-transporter ATP7B. Thus far, studies of WD mutations have been limited to analysis of ATP7B mutants in the homozygous states. However, the majority of WD patients are compound-heterozygous, and how different mutations on two alleles impact ATP7B properties is unclear. We characterized five mutations identified in Indian...
Topics
- Adenosine Triphosphatases
- Alleles
- Cation Transport Proteins
- Copper
- Copper-Transporting ATPases
- Endoplasmic Reticulum
- Genetic Association Studies
- HEK293 Cells
- Hepatolenticular Degeneration
- Humans
- Mutation
- Protein Transport
- trans-Golgi Network