Searchable abstracts of presentations at key conferences on calcified tissues

ba0003pp158 | Cell biology: osteoclasts and bone resorption | ECTS2014

Study of the molecular effects of disease-causing mutations in RANK using human protein expression models

Das Subhajit , Bramham Janice , Duthie Angela , Clark Susan , Crockett Julie

The interaction of Receptor Activator of NFkB ligand (RANKL) with its cognate receptor RANK is crucial for osteoclast formation. We studied eight point mutations within human RANK associated with rare forms of osteopetrosis to gain mechanistic insights into the regulation of RANK signalling.We investigated the role of the oligomerisation domain within the cytoplasmic region of RANK studying two mutations (W434X and G280X) identified in rare cases of oste...