The Loss of Profilin 1 Causes Early Onset Paget's Disease of Bone

Abstract excerpt

Paget's disease of bone (PDB) is a late-onset disorder frequently caused by mutations in the SQSTM1 gene, leading to hyperactive osteoclasts and resulting in bone pain, deformities, and fractures. However, some more severe forms of PDB-negative for SQSTM1 mutations-have been described, in which the disease degenerates into bone cancers and shows a poor prognosis. Osteosarcoma is the most frequent and aggressive...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Bone health and treatments
• Share to Cancer-related Molecular Pathways
• Share to Ubiquitin and proteasome pathways