Novel UBA domain mutations of SQSTM1 in Paget's disease of bone:: Genotype phenotype correlation, functional analysis, and structural consequences
Novel UBA domain mutations of SQSTM1 in Paget's disease of bone:: Genotype phenotype correlation, functional analysis, and structural consequences
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DOI：
10.1359/jbmr.0403015
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发表时间：
2004-07-01
影响因子：
6.2
通讯作者：
Ralston, SH
中科院分区：
文献类型：
--
作者：
Hocking, LJ;Lucas, GJA;Ralston, SH
在家族性PDB中发现了三个新的SQSTM1错义突变，它们都影响UBA结构域。功能和结构分析表明，疾病严重程度与突变类型有关，但与突变体UBA结构域肽的多泛素结合特性无关。
Three novel missense mutations of SQSTM1 were identified in familial PDB, all affecting the UBA domain. Functional and structural analysis showed that disease severity was related to the type of mutation but was unrelated to the polyubiquitin-binding properties of the mutant UBA domain peptides.