Searchable abstracts of presentations at key conferences on calcified tissues

ba0003pp370 | Other diseases of bone and mineral metabolism | ECTS2014

Isoform-specific effects of Sequestosome-1 UBA domain mutations on NF-κB signalling

Willems Ariane , Azzam Eman , Helfrich Miep , Hocking Lynne

Paget’s disease of Bone (PDB) is caused by mutations in the gene encoding Sequestosome-1 (Q17STM1 or p62) that affect the C-terminal Ubiquitin-Associated (UBA) domain. A second isoform of Q17STM1 exists (referred to hereafter as 55kDa-Q17STM1), which lacks the N-terminal Phox and Bem1 (PB1) domain and has previously been reported to be ~45x more abundant than Q17STM1/p62 in osteoclasts. Mutations in the UBA domain will also occur in this isoform. Several of the UBA mutati...