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

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1842, Issue 7, 2014, Pages 992-1000

  Goode, Alice ^a   Long, Jed E ^a   Shaw, Barry ^a   Ralston, Stuart H ^b   Visconti, Micaela Rios ^b   Gianfrancesco, Fernando ^c   Esposito, Teresa ^c   Gennari, Luigi ^d   Merlotti, Daniela ^d   Rendina, Domenico ^e   Rea, Sarah L ^f,g   Sultana, Melanie ^g   Searle, Mark S ^a   Layfield, Robert ^a  

^a UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^d UNIVERSITY OF SIENA   (Italy)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^g SIR CHARLES GAIRDNER HOSPITAL   (Australia)

Author keywords

NF B; P62; Paget disease of bone; Sequestosome 1; SQSTM1; Ubiquitin

Indexed keywords

CARBOXY TERMINAL UBIQUITIN ASSOCIATED DOMAIN PROTEIN; DIMER; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; MONOMER; MUTANT PROTEIN; PROTEIN; SEQUESTOSOME 1 PROTEIN; UBIQUITIN; UNCLASSIFIED DRUG;

ARTICLE; BINDING AFFINITY; CONTROLLED STUDY; DIMERIZATION; DISEASE SEVERITY; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; IN VITRO STUDY; IN VIVO STUDY; ISOTHERMAL TITRATION CALORIMETRY; ITALY; MAJOR CLINICAL STUDY; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PAGET BONE DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DETERMINATION; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN STABILITY; PROTEIN STRUCTURE; REPORTER GENE; SIGNAL TRANSDUCTION; UNITED KINGDOM; WILD TYPE;

NF-ΚB; P62; PAGET DISEASE OF BONE; SEQUESTOSOME 1; SQSTM1; UBIQUITIN;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CELL LINE; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HUMANS; MODELS, MOLECULAR; MUTATION; NF-KAPPA B; OSTEITIS DEFORMANS; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; SIGNAL TRANSDUCTION; UBIQUITIN;

EID: 84897440157     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2014.03.006     Document Type: Article

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