Journal
RARE DISEASES
Volume 2, Issue 1, Pages -Publisher
TAYLOR & FRANCIS INC
DOI: 10.4161/21675511.2014.974982
Keywords
corrector; degradation; pathogenic mutation; potentiator; SCD-EDS; SLC39A13; zinc transporter; ZIP13
Categories
Funding
- KAKENHI
- Japan Society for the Promotion of Science
- Life Science Foundation of Japan
- Japan Osteoporosis Foundation
- Targeted Proteins Research Program
- RIKEN Junior Research Associate Program
- Ministry of Education, Culture, Sports, Science, and Technology.
- Grants-in-Aid for Scientific Research [26462324] Funding Source: KAKEN
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The zinc transporter protein ZIP13 plays crucial roles in bone, tooth, and connective tissue development, and its dysfunction is responsible for the spondylocheirodysplastic form of EhlersDanlos syndrome (SCD-EDS, OMIM 612350). We recently reported that the pathogenic mutations in ZIP13 reduce its functional protein level by accelerating the protein degradation via the VCPlinked ubiquitin proteasome pathway, resulting in the disturbance of intracellular zinc homeostasis that appears to contribute to SCD-EDS pathogenesis. Finally, we implicate that possible therapeutic approaches for SCD-EDS would be based on regulating the degradation of the pathogenic mutant ZIP13 proteins.
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