Article
Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function.
Biochimica et biophysica acta - 1 Jul 2014
Goode Alice, Long Jed E, Shaw Barry, Ralston Stuart H, Visconti Micaela Rios, Gianfrancesco Fernando, Esposito Teresa, Gennari Luigi, Merlotti Daniela, Rendina Domenico, Rea Sarah L, Sultana Melanie, Searle Mark S, Layfield Robert
Abstract excerpt
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 I424S mutation relatively common in UK PDB patients, and an A427D mutation associated with a severe phenotype in Southern Italian patients. Both impaired SQSTM1's...
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