Three novel missense mutations of SQSTM1 were identified in familial PDB, all affecting the UBA domain. Functional and structural analysis showed that disease severity was related to the type of mutation but was unrelated to the polyubiquitin-binding properties of the mutant UBA domain peptides.
|Number of pages||5|
|Journal||Journal of Bone and Mineral Research|
|Publication status||Published - Jul 2004|
- Paget's disease of bone
- chromosome 18Q