MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet.
MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet.
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DOI：
10.1007/s00401-007-0247-0
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发表时间：
2007-10
影响因子：
12.7
通讯作者：
van der Knaap, Marjo S.
中科院分区：
文献类型：
--
作者：
Boor, Ilja;Nagtegaal, Machiel;Kamphorst, Wouter;van der Valk, Paul;Pronk, Jan C.;van Horssen, Jack;Dinopoulos, Argirios;Bove, Kevin E.;Pascual-Castroviejo, Ignacio;Muntoni, Francesco;Estevez, Raul;Scheper, Gert C.;van der Knaap, Marjo S.
巨脑白质脑病伴皮质下囊肿（MLC）是一种进行性脑白色疾病，起病于儿童期，由MLC 1基因突变引起。MLC 1是一种功能未知的蛋白质，主要表达于脑内血脑屏障和脑脊液脑屏障处的星形胶质细胞终足中。它与抗肌萎缩蛋白相关糖蛋白复合物（DGC）共同定位于星形胶质细胞的端足。本研究的目的是调查MLC 1与DGC的可能关联。为了检验这一假设，通过免疫组织化学染色分析了来自多发性硬化症患者的胶质瘤脑组织、胶质母细胞瘤组织和来自MLC患者的脑组织中的DGC蛋白和MLC 1的（共）定位。在对照组织中，通过免疫沉淀测试直接蛋白质相互作用。结果显示，MLC 1与DGC蛋白在胶质化脑组织中共定位。我们证明，MLC 1和水通道蛋白-4，DGC的成员，重新分布在胶质母细胞瘤细胞。在MLC脑组织中，我们发现MLC 1的缺失和几种DGC蛋白的表达改变。我们证明了MLC 1和Kir4.1之间的直接蛋白质相互作用。从这些结果中，我们得出结论，MLC 1与星形胶质细胞终足的DGC。
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a progressive cerebral white matter disease with onset in childhood, caused by mutations in the MLC1 gene. MLC1 is a protein with unknown function that is mainly expressed in the brain in astrocytic endfeet at the blood–brain and cerebrospinal fluid–brain barriers. It shares its localization at astrocytic endfeet with the dystrophin-associated glycoprotein complex (DGC). The objective of the present study was to investigate the possible association of MLC1 with the DGC. To test this hypothesis, (co)-localization of DGC-proteins and MLC1 was analyzed by immunohistochemical stainings in gliotic brain tissue from a patient with multiple sclerosis, in glioblastoma tissue and in brain tissue from an MLC patient. In control tissue, a direct protein interaction was tested by immunoprecipitation. Results revealed that MLC1 is co-localized with DGC-proteins in gliotic brain tissue. We demonstrated that both MLC1 and aquaporin-4, a member of the DGC, were redistributed in glioblastoma cells. In MLC brain tissue, we showed absence of MLC1 and altered expression of several DGC-proteins. We demonstrated a direct protein interaction between MLC1 and Kir4.1. From these results we conclude that MLC1 is associated with the DGC at astrocytic endfeet.
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影响因子：
4.8
作者：
Connors, NC;Adams, ME;Kofuji, P
通讯作者：
Kofuji, P
影响因子：
9.8
作者：
Leegwater, PAJ;Yuan, BQ;van der Knaap, MS
通讯作者：
van der Knaap, MS
影响因子：
12.7
作者：
Warth, A;Kröger, S;Wolburg, H
通讯作者：
Wolburg, H
DOI：
10.1073/pnas.241508198
发表时间：
2001-11-20
影响因子：
11.1
作者：
Neely, JD;Amiry-Moghaddam, M;Adams, ME
通讯作者：
Adams, ME
DOI：
10.1073/pnas.85.5.1544
发表时间：
1988-03-01
影响因子：
11.1
作者：
LEIVO, I;ENGVALL, E
通讯作者：
ENGVALL, E