Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function

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, a...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Pub. Co 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4034160/
https://www.ncbi.nlm.nih.gov/pubmed/24642144
http://dx.doi.org/10.1016/j.bbadis.2014.03.006

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