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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier Pub. Co 2014
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4034160/
https://ncbi.nlm.nih.gov/pubmed/24642144
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2014.03.006
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