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亨廷顿舞蹈症:通过测定培养的成纤维细胞的γ-氨基丁酸合成进行生化预测

Huntington's disease: biochemical prediction by determination of GABA synthesis of cultured fibroblasts.

作者信息

Göhlich G, Kuhn W, Höhn H, Przuntek H

出版信息

J Neurol. 1984;231(1):50-1. doi: 10.1007/BF00313653.

DOI:10.1007/BF00313653
PMID:6232351
Abstract

GABA synthesis in skin fibroblasts from patients with Huntington's chorea was compared with that in a control group by means of the highly specific 3H-muscimol radioreceptor assay. A significantly increased rate of GABA synthesis was found in the group with Huntington's chorea in an early cell passage. The possible use of this method for early diagnosis of Huntington's chorea is considered.

摘要

通过高特异性的3H-蝇蕈醇放射受体分析法,比较了亨廷顿舞蹈症患者皮肤成纤维细胞中的γ-氨基丁酸(GABA)合成与对照组中的情况。在早期细胞传代时,发现亨廷顿舞蹈症组的GABA合成速率显著增加。考虑了该方法在亨廷顿舞蹈症早期诊断中的可能应用。

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Huntington's disease: biochemical prediction by determination of GABA synthesis of cultured fibroblasts.亨廷顿舞蹈症:通过测定培养的成纤维细胞的γ-氨基丁酸合成进行生化预测
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2
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引用本文的文献

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Human Dermal Fibroblast: A Promising Cellular Model to Study Biological Mechanisms of Major Depression and Antidepressant Drug Response.人真皮成纤维细胞:研究重度抑郁症生物学机制和抗抑郁药反应的有前途的细胞模型。
Curr Neuropharmacol. 2020;18(4):301-318. doi: 10.2174/1570159X17666191021141057.
2
Electron spin resonance of erythrocytes in Huntington's disease.亨廷顿舞蹈病中红细胞的电子自旋共振
J Neurol. 1984;231(3):162-4. doi: 10.1007/BF00313686.

本文引用的文献

1
Measurement of gamma-aminobutyric acid in human cerebrospinal fluid: radioreceptor assay using [3H]muscimol.
Clin Chim Acta. 1981 Jan 8;109(1):77-82. doi: 10.1016/0009-8981(81)90139-x.
2
Determination of GABA levels by a [3H]muscimol radioreceptor assay.
J Neurochem. 1980 Mar;34(3):614-8. doi: 10.1111/j.1471-4159.1980.tb11188.x.
3
Glutamic acid decarboxylase and gamma-aminobutyric acid in Huntington's disease fibroblasts and other cultured cells, determined by a [3H]muscimol radioreceptor assay.通过[³H]蝇蕈醇放射受体分析法测定亨廷顿舞蹈病成纤维细胞和其他培养细胞中的谷氨酸脱羧酶和γ-氨基丁酸
J Neurochem. 1981 Oct;37(4):1032-8. doi: 10.1111/j.1471-4159.1981.tb04491.x.
4
Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.与一种X连锁人类神经疾病及嘌呤过度合成相关的酶缺陷。
Science. 1967 Mar 31;155(3770):1682-4. doi: 10.1126/science.155.3770.1682.
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Markers for gene expression in cultured cells from the nervous system.神经系统培养细胞中基因表达的标志物。
J Biol Chem. 1972 May 25;247(10):3159-69.
6
Influences ions, enzymes, and detergents on gamma-aminobutyric acid-receptor binding in synaptic membranes of rat brain.离子、酶和去污剂对大鼠脑突触膜中γ-氨基丁酸受体结合的影响。
Mol Pharmacol. 1977 May;13(3):442-53.
7
GABA synthesis by cultured fibroblasts obtained from persons with Huntington's disease.由亨廷顿舞蹈症患者的培养成纤维细胞合成γ-氨基丁酸
J Neurochem. 1979 Nov;33(5):985-92. doi: 10.1111/j.1471-4159.1979.tb05234.x.