Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function
(2014)
Journal Article
Goode, A., Long, J. E., Shaw, B., Ralston, S. H., Visconti, M. R., Gianfrancesco, F., …Layfield, R. (2014). Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function. BBA - Molecular Basis of Disease, 1842(7), 992-1000. https://doi.org/10.1016/j.bbadis.2014.03.006
SQSTM1 mutations are common in patients with Paget disease of bone (PDB), with most affecting the C-terminal ubiquitin-associated (UBA) domain of the SQSTM1 protein. We performed structural and functional analyses of two UBA domain mutations, an I424... Read More about Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function.