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Mutations associated with a childhood leukodystrophy, Alexander disease, cause deficiency in dimerization of the cytoskeletal protein GFAP.

作者信息

Nielsen Anders L, Jørgensen Poul, Jørgensen Arne L

机构信息

Department of Human Genetics, The Bartholin Building, University of Aarhus, DK-8000 Aarhus C, Denmark.

出版信息

J Neurogenet. 2002 Jul-Sep;16(3):175-9. doi: 10.1080/01677060215305.

DOI:10.1080/01677060215305
PMID:12696672
Abstract

Heterozygous, de novo mutations in the glial fibrillary acidic protein (GFAP) gene were recently found to be associated with Alexander disease. We examined the functional effect of such mutations, and observed a decrease in GFAP dimerization. This effect behaves in a dominant fashion and points towards a potential mechanism in pathogenesis.

摘要

相似文献

1
Mutations associated with a childhood leukodystrophy, Alexander disease, cause deficiency in dimerization of the cytoskeletal protein GFAP.
J Neurogenet. 2002 Jul-Sep;16(3):175-9. doi: 10.1080/01677060215305.
2
Effects of Alexander disease-associated mutations on the assembly and organization of GFAP intermediate filaments.亚历山大病相关突变对 GFAP 中间丝组装和组织的影响。
Mol Biol Cell. 2022 Jul 1;33(8):ar69. doi: 10.1091/mbc.E22-01-0013. Epub 2022 May 5.
3
GFAP mutations in Alexander disease.亚历山大病中的胶质纤维酸性蛋白突变
Int J Dev Neurosci. 2002 Jun-Aug;20(3-5):259-68. doi: 10.1016/s0736-5748(02)00019-9.
4
Focus on molecules: glial fibrillary acidic protein (GFAP).聚焦分子：胶质纤维酸性蛋白（GFAP）。
Exp Eye Res. 2007 Mar;84(3):381-2. doi: 10.1016/j.exer.2005.12.014. Epub 2006 Mar 24.
5
The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alpha B-crystallin and HSP27.导致亚历山大病的胶质纤维酸性蛋白突变体R416W，通过一条涉及细丝聚集以及αB-晶状体蛋白和热休克蛋白27关联的途径积聚形成罗森塔尔纤维。
Am J Hum Genet. 2006 Aug;79(2):197-213. doi: 10.1086/504411. Epub 2006 Jun 12.
6
Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients.婴儿型亚历山大病：一对同卵双胞胎中的胶质纤维酸性蛋白（GFAP）突变及另外两名患者中的新突变。
Neuropediatrics. 2002 Aug;33(4):194-8. doi: 10.1055/s-2002-34495.
7
GFAP and its role in Alexander disease.胶质纤维酸性蛋白（GFAP）及其在亚历山大病中的作用。
Exp Cell Res. 2007 Jun 10;313(10):2077-87. doi: 10.1016/j.yexcr.2007.04.004. Epub 2007 Apr 6.
8
Structural and functional characterization of the zebrafish gene for glial fibrillary acidic protein, GFAP.斑马鱼胶质纤维酸性蛋白（GFAP）基因的结构与功能特征
Gene. 2003 May 22;310:123-32. doi: 10.1016/s0378-1119(03)00526-2.
9
Alexander disease causing mutations in the C-terminal domain of GFAP are deleterious both to assembly and network formation with the potential to both activate caspase 3 and decrease cell viability.GFAP C 端结构域的亚历山大病致病突变对装配和网络形成均具有有害性，可能同时激活半胱天冬酶 3 并降低细胞活力。
Exp Cell Res. 2011 Oct 1;317(16):2252-66. doi: 10.1016/j.yexcr.2011.06.017. Epub 2011 Jul 2.
10
Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander disease severity.特定部位磷酸化和半胱天冬酶切割的 GFAP 是亚历山大病严重程度的新标志物。
Elife. 2019 Nov 4;8:e47789. doi: 10.7554/eLife.47789.

引用本文的文献

1
Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.通过全外显子测序鉴定一个伊朗家族性 Alexander 病中新型的 GFAP 从头致病性变异。
Eur J Med Res. 2022 Sep 10;27(1):174. doi: 10.1186/s40001-022-00799-5.
2
Human iPSC-Derived Astrocytes: A Powerful Tool to Study Primary Astrocyte Dysfunction in the Pathogenesis of Rare Leukodystrophies.人诱导多能干细胞源性星形胶质细胞：研究罕见白质营养不良发病机制中初级星形胶质细胞功能障碍的有力工具。
Int J Mol Sci. 2021 Dec 27;23(1):274. doi: 10.3390/ijms23010274.
3
Relative stabilities of wild-type and mutant glial fibrillary acidic protein in patients with Alexander disease.
野生型和突变型胶质纤维酸性蛋白在亚历山大病患者中的相对稳定性。
J Biol Chem. 2019 Oct 25;294(43):15604-15612. doi: 10.1074/jbc.RA119.009777. Epub 2019 Sep 4.
4
Alexander disease: a leukodystrophy caused by a mutation in GFAP.
Neurochem Res. 2004 May;29(5):961-4. doi: 10.1023/b:nere.0000021240.30518.2c.