Novel UBA domain mutations of SQSTM1 in Paget's disease of bone:: Genotype phenotype correlation, functional analysis, and structural consequences

被引：120

作者：

Hocking, LJ

Lucas, GJA

Daroszewska, A

Cundy, T

Nicholson, GC

Donath, J

Walsh, JP

Finlayson, C

Cavey, JR

Ciani, B

Sheppard, PW

Searle, MS

Layfield, R

Ralston, SH ^{[1
]}

机构：

[1] Univ Aberdeen, Dept Med & Therapeut, Sch Med, Aberdeen AB25 2ZD, Scotland

[2] Univ Auckland, Dept Med, Auckland 1, New Zealand

[3] Univ Melbourne, Geelong Hosp, Dept Clin & Biomed Sci, Melbourne, Vic, Australia

[4] Natl Inst Rheumatism & Physiotherapy, Budapest, Hungary

[5] Sir Charles Gairdner Hosp, Dept Endocrinol & Diabet, Perth, WA, Australia

[6] Univ Nottingham, Sch Biomed Sci, Nottingham NG7 2RD, England

[7] Univ Nottingham, Sch Chem, Nottingham NG7 2RD, England

[8] Affiniti Res Prod, Exeter, Devon, England

来源：

JOURNAL OF BONE AND MINERAL RESEARCH | 2004年 / 19卷 / 07期

关键词：

Paget's disease of bone; SQSTM1; ubiquitin; p62;

D O I：

10.1359/JBMR.0403015

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

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收藏

页码：1122 / 1127

页数：6

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