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Functional Studies of MLC1 Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts
Xie, Han1; Wang, Jingmin1; Dhaunchak, Ajit Singh2; Shang, Jing1,3; Kou, Liping1,3; Guo, Mangmang1; Wu, Ye1; Gu, Qiang1; Colman, David2; Wu, Xiru1; Jiang, Yuwu1
刊名PLOS ONE
2012-03-05
DOI10.1371/journal.pone.0033087
7期:3
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Multidisciplinary Sciences
研究领域[WOS]Science & Technology - Other Topics
关键词[WOS]DER-KNAAP-DISEASE ; DYSTROPHIN-GLYCOPROTEIN COMPLEX ; GENETIC-HETEROGENEITY ; CELL MODEL ; PROTEIN ; SCHIZOPHRENIA ; ASTROCYTES ; CAVEOLINS ; SYSTEMS
英文摘要

Megalencephalic leukoencephalopathy with subcortical cysts (MLC, MIM# 604004) is an autosomal recessive inherited disease mostly resulting from MLC1 mutations. In this study, we finished the functional analysis of MLC1 mutations identified recently in Chinese patients, including five newly described missense mutations (R22Q, A32V, G73E, A275T, Y278H), one known nonsense mutation (Y198X), and two known missense mutations (S69L, T118M). We found MLC1(wt) was localized to the cell periphery, whereas mutant R22Q, A32V, G73E, S69L and T118M were trapped in the lumen of endoplasmic reticulum (ER) when we transfected the wild-type and mutant MLC1 in U373MG cells. Compared to wild type, the mutant G73E, T118M, Y198X and A275T transcript decreased and all mutants except R22Q had lower protein expression in transfected U373MG cells. Therefore, we propose that all these eight MLC1 mutations had functional effect either on their protein/mRNA expression, or on their intracellular protein localization, or both.

语种英语
WOS记录号WOS:000303017700130
项目编号2006BAI05A07 ; 2007CB5119004 ; 30973227
资助机构National Key Research Project "11-5&prime ; &prime ; Science and Technology Ministry of China ; National Natural Science Foundation of China
引用统计
被引频次:2[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/59139
专题北京大学第一临床医学院_儿科
作者单位1.McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada
2.Shanxi Med Univ, Taiyuan, Shanxi, Peoples R China
3.Peking Univ, Dept Pediat, Hosp 1, Beijing 100871, Peoples R China
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GB/T 7714
Xie, Han,Wang, Jingmin,Dhaunchak, Ajit Singh,et al. Functional Studies of MLC1 Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts[J]. PLOS ONE,2012,7(3).
APA Xie, Han.,Wang, Jingmin.,Dhaunchak, Ajit Singh.,Shang, Jing.,Kou, Liping.,...&Jiang, Yuwu.(2012).Functional Studies of MLC1 Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts.PLOS ONE,7(3).
MLA Xie, Han,et al."Functional Studies of MLC1 Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts".PLOS ONE 7.3(2012).
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