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Myoclonic epilepsy with lafora bodies. Some ultrastructural, histochemical, and biochemical aspects.

作者信息

Gambetti P, Di Mauro S, Hirt L, Blume R P

出版信息

Arch Neurol. 1971 Dec;25(6):483-93. doi: 10.1001/archneur.1971.00490060017002.

DOI:10.1001/archneur.1971.00490060017002
PMID:4329923
Abstract
摘要

相似文献

1
Myoclonic epilepsy with lafora bodies. Some ultrastructural, histochemical, and biochemical aspects.伴有拉福拉小体的肌阵挛性癫痫。一些超微结构、组织化学和生物化学方面的内容。
Arch Neurol. 1971 Dec;25(6):483-93. doi: 10.1001/archneur.1971.00490060017002.
2
Progressive myoclonus epilepsy with Lafora inclusion bodies. I. Clinical, genetic, histopathologic, and biochemical aspects.
Arch Neurol. 1967 Jun;16(6):565-82. doi: 10.1001/archneur.1967.00470240003001.
3
Neuropathological studies in three Scandinavian cases of progressive myoclonus epilepsy.
Acta Neurol Scand. 1969;45(1):63-77. doi: 10.1111/j.1600-0404.1969.tb01220.x.
4
Muscle in Lafora disease.拉福拉病中的肌肉。
Arch Neurol. 1974 Dec;31(6):396-406. doi: 10.1001/archneur.1974.00490420062007.
5
Studies in myoclonus epilepsy. (Lafora body form). IV. Skeletal muscle abnormalities.肌阵挛性癫痫研究。（拉福拉体形式）。IV. 骨骼肌异常。
Arch Neurol. 1974 Jun;30(6):466-74. doi: 10.1001/archneur.1974.00490360042009.
6
[Evolution of Lafora bodies. Ultrastructural study].[拉福拉小体的演变。超微结构研究]
Trab Inst Cajal Invest Biol. 1973;65:167-76.
7
Presenile dementia with "Lafora-like" intraneuronal inclusions.
Arch Neurol. 1971 Jul;25(1):69-80. doi: 10.1001/archneur.1971.00490010079011.
8
Studies in myoclonus epilepsy. 3. The effects of amylolytic enzymes on the ultrastructure of Lafora bodies.肌阵挛性癫痫的研究。3. 淀粉分解酶对拉福拉小体超微结构的影响。
J Histochem Cytochem. 1971 Jun;19(6):382-5. doi: 10.1177/19.6.382.
9
Atypical inclusion bodies with myoclonic epilepsy.伴有肌阵挛性癫痫的非典型包涵体
Acta Neuropathol. 1966 Sep 1;7(1):16-25. doi: 10.1007/BF00686606.
10
[Cytophotometric studies on the staining dichroism of Lafora bodies (Lafora bodies)].[关于拉福拉小体（Lafora bodies）染色二向色性的细胞光度学研究]
Acta Neuropathol. 1971;19(1):33-8. doi: 10.1007/BF00690952.

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Molecular dynamics simulations and principal component analysis on human laforin mutation W32G and W32G/K87A.人类 laforin 突变 W32G 和 W32G/K87A 的分子动力学模拟和主成分分析。
Protein J. 2014 Jun;33(3):289-95. doi: 10.1007/s10930-014-9561-2.
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Laforin-malin complex degrades polyglucosan bodies in concert with glycogen debranching enzyme and brain isoform glycogen phosphorylase.
拉福林-马啉复合物与糖原脱支酶和脑型糖原磷酸化酶协同作用，降解多聚葡萄糖体。
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Laforin prevents stress-induced polyglucosan body formation and Lafora disease progression in neurons.拉弗拉宁可防止应激诱导的多聚葡聚糖体形成和拉佛拉病神经元进展。
Mol Neurobiol. 2013 Aug;48(1):49-61. doi: 10.1007/s12035-013-8438-2. Epub 2013 Apr 2.
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Laforin is required for the functional activation of malin in endoplasmic reticulum stress resistance in neuronal cells.Laforin 对于神经元细胞内质网应激抵抗中 malin 的功能激活是必需的。
FEBS J. 2012 Jul;279(14):2467-78. doi: 10.1111/j.1742-4658.2012.08627.x. Epub 2012 Jun 8.
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Lafora disease: insights into neurodegeneration from plant metabolism.拉佛拉病：从植物代谢看神经退行性变。
Trends Biochem Sci. 2009 Dec;34(12):628-39. doi: 10.1016/j.tibs.2009.08.002. Epub 2009 Oct 7.
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Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stress.EPM2A的缺失和错义突变会加剧内质网应激诱导的神经元细胞未折叠蛋白反应和细胞凋亡。
Hum Mol Genet. 2009 Jul 15;18(14):2622-31. doi: 10.1093/hmg/ddp196. Epub 2009 Apr 29.
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Laforin, a dual specificity phosphatase that dephosphorylates complex carbohydrates.拉福林，一种使复合碳水化合物去磷酸化的双特异性磷酸酶。
J Biol Chem. 2006 Oct 13;281(41):30412-8. doi: 10.1074/jbc.M606117200. Epub 2006 Aug 10.
9
Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities.拉福拉进行性肌阵挛癫痫：通过重组和纯合性缩小6号染色体q24位点范围
Am J Hum Genet. 1997 Nov;61(5):1205-9. doi: 10.1086/301596.
10
Immunochemical identification of ubiquitin and heat-shock proteins in corpora amylacea from normal aged and Alzheimer's disease brains.正常老年大脑和阿尔茨海默病大脑淀粉样体中泛素和热休克蛋白的免疫化学鉴定
Acta Neuropathol. 1993;85(3):233-40. doi: 10.1007/BF00227716.