Osteoclasts and osteoblasts dictate skeletal mass, structure, and strength via their respective
roles in resorbing and forming bone. Bone remodeling is a spatially coordinated lifelong …

Osteoclasts are responsible for bone resorption and play a pivotal role in the pathogenesis
of osteolytic disorders. NF-κB is a set of nuclear factors that bind to consensus DNA …

Understanding the pathogenic mechanisms of disease mutations is critical to advancing
treatments. ALS-associated mutations in the gene encoding the microtubule motor KIF5A …

Paget disease of bone (PDB) is a common disease characterized by focal areas of
increased and disorganized bone turnover. Some patients are asymptomatic, whereas …

Optineurin is a gene linked to glaucoma, amyotrophic lateral sclerosis, other
neurodegenerative diseases, and Paget's disease of bone. This review describes the …

Paget's disease of bone (PDB) is characterized by focal areas of aberrant and excessive
bone turnover, specifically increased bone resorption and disorganized bone formation …

Multisystem proteinopathy (MSP) involves disturbances of stress granule (SG) dynamics and
autophagic protein degradation that underlie the pathogenesis of a spectrum of …

The p62 protein functions as a scaffold in signaling pathways that lead to activation of NF-κB
and is an important regulator of osteoclastogenesis. Mutations affecting the receptor …

Mutations of the SQSTM1/p62 gene are commonly observed in PDB. Screening an updated
sample from Quebec and using previously published data from other populations, we …

Paget's disease of bone is a common condition characterised by increased and
disorganised bone turnover which can affect one or several bones throughout the skeleton …