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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier Pub. Co 2014
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Article
On-line přístup: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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