Alexander disease.
作者信息
Messing Albee, Brenner Michael, Feany Mel B, Nedergaard Maiken, Goldman James E
机构信息
Waisman Center and Department of Comparative Biosciences, University of Wisconsin Madison, Madison, Wisconsin 53705, USA.
出版信息
J Neurosci. 2012 Apr 11;32(15):5017-23. doi: 10.1523/JNEUROSCI.5384-11.2012.
Abstract
摘要
相似文献
1
Alexander disease.亚历山大病
J Neurosci. 2012 Apr 11;32(15):5017-23. doi: 10.1523/JNEUROSCI.5384-11.2012.
2
Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction.亚历山大病和伴有皮质下囊肿的巨脑性白质脑病：由星形胶质细胞功能障碍引起的脑白质营养不良。
Ment Retard Dev Disabil Res Rev. 2006;12(2):113-22. doi: 10.1002/mrdd.20101.
3
Alexander disease: GFAP mutations unify young and old.亚历山大病：胶质纤维酸性蛋白突变将年轻和老年病例联系起来。
Lancet Neurol. 2003 Feb;2(2):75. doi: 10.1016/s1474-4422(03)00301-6.
4
A novel GFAP mutation in a type II (late-onset) Alexander disease patient.一名II型（迟发型）亚历山大病患者中的一种新型胶质纤维酸性蛋白（GFAP）突变。
J Neurol. 2016 Apr;263(4):821-2. doi: 10.1007/s00415-016-8065-8. Epub 2016 Feb 25.
5
[Glial fibrillary acidic protein: the component of intermediate filaments in the vertebrate brain astrocytes].[胶质纤维酸性蛋白：脊椎动物脑星形胶质细胞中间丝的组成成分]
Zh Evol Biokhim Fiziol. 2015 Jan-Feb;51(1):3-10.
6
Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene.以枕叶为主的亚历山大病及胶质纤维酸性蛋白（GFAP）基因的一个新的c.799G>C突变
Acta Neuropathol. 2007 Nov;114(5):543-5. doi: 10.1007/s00401-007-0292-8. Epub 2007 Sep 6.
7
Aggregate formation analysis of GFAP found in one case of Alexander disease.在一例亚历山大病中发现的胶质纤维酸性蛋白（GFAP）聚集体形成分析。
Brain Dev. 2019 Feb;41(2):195-200. doi: 10.1016/j.braindev.2018.08.009. Epub 2018 Sep 10.
8
Glial fibrillary acidic protein exhibits altered turnover kinetics in a mouse model of Alexander disease.在亚历山大病小鼠模型中，胶质纤维酸性蛋白的周转动力学发生改变。
J Biol Chem. 2017 Apr 7;292(14):5814-5824. doi: 10.1074/jbc.M116.772020. Epub 2017 Feb 21.
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Alexander disease: combined gene analysis and MRI clarify pathogenesis and extend phenotype.亚历山大病：联合基因分析与磁共振成像阐明发病机制并扩展表型
Ann Neurol. 2005 Mar;57(3):307-8. doi: 10.1002/ana.20436.
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Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.婴儿型、青少年型和成人型亚历山大病中的胶质纤维酸性蛋白突变
Ann Neurol. 2005 Mar;57(3):310-26. doi: 10.1002/ana.20406.
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Glial Fibrillary Acidic Protein as a Marker of Disease in Relapsing Multiple Sclerosis: Post Hoc Analysis of Phase 3 Ozanimod Trials.胶质纤维酸性蛋白作为复发型多发性硬化症疾病标志物：奥扎尼莫德3期试验的事后分析
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Successful Anesthetic Management for Laparoscopic Gynecological Surgery in Adult-Onset Alexander's Disease: A Case Report.成人型亚历山大病患者腹腔镜妇科手术的成功麻醉管理：一例报告
Cureus. 2025 May 1;17(5):e83287. doi: 10.7759/cureus.83287. eCollection 2025 May.
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Bilateral vestibulopathy in Alexander disease type II- a case report.II型亚历山大病中的双侧前庭病——病例报告
Eur Arch Otorhinolaryngol. 2025 May 6. doi: 10.1007/s00405-025-09416-7.
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GFAP mutation and astrocyte dysfunction lead to a neurodegenerative profile with impaired synaptic plasticity and cognitive deficits in a rat model of Alexander disease.在亚历山大病大鼠模型中，胶质纤维酸性蛋白（GFAP）突变和星形胶质细胞功能障碍导致神经退行性病变，伴有突触可塑性受损和认知缺陷。
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Iconography of abnormal non-neuronal cells in pediatric focal cortical dysplasia type IIb and tuberous sclerosis complex.小儿IIb型局灶性皮质发育不良和结节性硬化症复合体中异常非神经元细胞的影像学表现
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Autophagy in brain tumors: molecular mechanisms, challenges, and therapeutic opportunities.脑肿瘤中的自噬：分子机制、挑战与治疗机遇
J Transl Med. 2025 Jan 13;23(1):52. doi: 10.1186/s12967-024-06063-0.
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Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease.英国生物银行中胶质纤维酸性蛋白（GFAP）变异分析表明成人型亚历山大病存在诊断不足或不完全显性。
J Neurol Neurosurg Psychiatry. 2024 Dec 6. doi: 10.1136/jnnp-2024-335089.
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Aberrant activation of hippocampal astrocytes causes neuroinflammation and cognitive decline in mice.海马星形胶质细胞的异常激活导致小鼠神经炎症和认知能力下降。
PLoS Biol. 2024 Jul 11;22(7):e3002687. doi: 10.1371/journal.pbio.3002687. eCollection 2024 Jul.
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Human post-mortem organotypic brain slice cultures: a tool to study pathomechanisms and test therapies.人类死后器官型脑切片培养：研究发病机制和测试治疗方法的工具。
Acta Neuropathol Commun. 2024 May 31;12(1):83. doi: 10.1186/s40478-024-01784-1.
本文引用的文献
1
Archetypal and new families with Alexander disease and novel mutations in GFAP.患有亚历山大病的典型和新家族以及GFAP中的新突变。
Arch Neurol. 2012 Feb;69(2):208-14. doi: 10.1001/archneurol.2011.1181. Epub 2011 Oct 10.
2
GFAP mutations, age at onset, and clinical subtypes in Alexander disease.GFAP 突变、发病年龄和 Alexander 病的临床亚型。
Neurology. 2011 Sep 27;77(13):1287-94. doi: 10.1212/WNL.0b013e3182309f72. Epub 2011 Sep 14.
3
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.
4
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.日本亚历山大病的全国性调查及诊断新指南的提出。
J Neurol. 2011 Nov;258(11):1998-2008. doi: 10.1007/s00415-011-6056-3. Epub 2011 May 1.
5
Protein misfolding and oxidative stress promote glial-mediated neurodegeneration in an Alexander disease model.蛋白质错误折叠和氧化应激促进亚历山大病模型中的神经胶质介导的神经退行性变。
J Neurosci. 2011 Feb 23;31(8):2868-77. doi: 10.1523/JNEUROSCI.3410-10.2011.
6
Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy.加拿大原住民中的婴儿型肌营养不良症是一种αB- 晶体蛋白病。
Ann Neurol. 2011 May;69(5):866-71. doi: 10.1002/ana.22331. Epub 2011 Feb 18.
7
Defective glial maturation in vanishing white matter disease.脑白质消融症伴胶质发育不全。
J Neuropathol Exp Neurol. 2011 Jan;70(1):69-82. doi: 10.1097/NEN.0b013e318203ae74.
8
Strategies for treatment in Alexander disease.亚历山大病的治疗策略。
Neurotherapeutics. 2010 Oct;7(4):507-15. doi: 10.1016/j.nurt.2010.05.013.
9
Astrogliosis in amyotrophic lateral sclerosis: role and therapeutic potential of astrocytes.肌萎缩侧索硬化症中的星形胶质细胞增生：星形胶质细胞的作用和治疗潜力。
Neurotherapeutics. 2010 Oct;7(4):471-81. doi: 10.1016/j.nurt.2010.05.012.
10
Targeting glia for treatment of neurological disease.靶向胶质细胞治疗神经疾病。
Neurotherapeutics. 2010 Oct;7(4):335-7. doi: 10.1016/j.nurt.2010.08.003.
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