A novel HEXB mutation and its structural effects in juvenile Sandhoff disease

被引：5

作者：

Wang, S. Z. ^{[1
]}

Cachon-Gonzalez, M. B. ^{[1
]}

Stein, P. E. ^{[1
]}

Lachmann, R. H. ^{[1
]}

Corry, P. C. ^{[2
]}

Wraith, J. E. ^{[3
]}

Cox, T. M. ^{[1
]}

机构：

[1] Univ Cambridge, Addenbrookes Hosp, Dept Med, Cambridge CB2 2QQ, England

[2] St Lukes Hosp, Bradford Hosp NHS Trust, Child Dev Ctr, Bradford BD5 ONA, W Yorkshire, England

[3] Royal Manchester Childrens Hosp, Willink Biochem Genet Unit, Manchester M27 4HA, Lancs, England

来源：

MOLECULAR GENETICS AND METABOLISM | 2008年 / 95卷 / 04期

关键词：

beta-hexosaminidase; Juvenile Sandhoff disease; HEXB; Mutation; Polymorphic; GM2; gangliosidosis;

D O I：

10.1016/j.ymgme.2008.08.007

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Mutations in HEXB, encoding the p-subunit common to hexosaminidases A and B, cause the neurodegenerative condition, Sandhoff disease. A homozygous missense HEXB Mutation (p. D459A) was discovered in six patients with a rare juvenile variant: we show that this disrupts a salt bridge between aspartate D459 and arginine 505 at the subunit interface; R505 mutations are reported in late-onset Sandhoff disease. Identification of D459A contributes to diagnosis and molecular understanding of attenuated Sandhoff disease variants. Crown Copyright (C) 2008 Published by Elsevier Inc. All rights reserved.

引用

页码：236 / 238

页数：3

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