Abstract
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.
Original language | English |
---|---|
Pages (from-to) | 1122-1127 |
Number of pages | 5 |
Journal | Journal of Bone and Mineral Research |
Volume | 19 |
Issue number | 7 |
DOIs | |
Publication status | Published - Jul 2004 |
Keywords
- Paget's disease of bone
- SQSTM1
- ubiquitin
- p62
- chromosome 18Q
- genetic-heterogeneity
- measles-virus
- linkage
- LOCI
- pro
- con