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SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease.

作者信息

Matalon R, Kaul R, Casanova J, Michals K, Johnson A, Rapin I, Gashkoff P, Deanching M

机构信息

Department of Pediatrics, University of Illinois, Chicago 60612.

出版信息

J Inherit Metab Dis. 1989;12 Suppl 2:329-31. doi: 10.1007/BF03335413.

DOI:10.1007/BF03335413
PMID:2512436
Abstract
摘要

相似文献

1
SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease.
J Inherit Metab Dis. 1989;12 Suppl 2:329-31. doi: 10.1007/BF03335413.
2
Unreliable verification of prenatal diagnosis of Canavan disease: aspartoacylase activity in deficient and normal fetal skin fibroblasts.卡纳万病产前诊断的不可靠验证：缺乏和正常胎儿皮肤成纤维细胞中的天冬氨酸酰基转移酶活性
J Inherit Metab Dis. 1994;17(6):748. doi: 10.1007/BF00712018.
3
Canavan disease: biochemical and molecular studies.卡纳万病：生物化学与分子研究
J Inherit Metab Dis. 1993;16(4):744-52. doi: 10.1007/BF00711906.
4
Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.Canavan病患者的天冬氨酸酰基转移酶缺乏症和N-乙酰天冬氨酸尿症。
Am J Med Genet. 1988 Feb;29(2):463-71. doi: 10.1002/ajmg.1320290234.
5
Variable course of Canavan disease in two boys with early infantile aspartoacylase deficiency.两名患有早发性婴儿期天冬氨酸酰基转移酶缺乏症男孩的卡纳万病病程多变。
Dev Med Child Neurol. 1991 Sep;33(9):824-8. doi: 10.1111/j.1469-8749.1991.tb14967.x.
6
Aspartoacylase deficiency and Canavan disease in Saudi Arabia.沙特阿拉伯的天冬氨酸酰基转移酶缺乏症与卡纳万病
Am J Med Genet. 1990 Feb;35(2):266-8. doi: 10.1002/ajmg.1320350224.
7
Protracted clinical course for patients with Canavan disease.卡纳万病患者的临床病程迁延。
Dev Med Child Neurol. 1993 Apr;35(4):355-8. doi: 10.1111/j.1469-8749.1993.tb11649.x.
8
Biochemical heterogeneity of infantile central nervous system spongy degeneration.婴儿中枢神经系统海绵状变性的生化异质性。
J Child Neurol. 1992 Apr;7 Suppl:S22-5. doi: 10.1177/08830738920070010411.
9
[Canavan disease (aspartoacylase deficiency)].[卡纳万病（天冬氨酸酰基转移酶缺乏症）]
Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):385-8.
10
Genetic spongiform encephalopathies.遗传性海绵状脑病
J Neuropathol Exp Neurol. 1990 Nov;49(6):621-2. doi: 10.1097/00005072-199011000-00008.

引用本文的文献

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N-acetylaspartate catabolism determines cytosolic acetyl-CoA levels and histone acetylation in brown adipocytes.N-乙酰天门冬氨酸分解代谢决定棕色脂肪细胞中胞质乙酰辅酶A水平和组蛋白乙酰化。
Sci Rep. 2016 Apr 5;6:23723. doi: 10.1038/srep23723.
2
The Clinical Features and Diagnosis of Canavan's Disease: A Case Series of Iranian Patients.卡纳万病的临床特征与诊断：一组伊朗患者病例系列
Iran J Child Neurol. 2014 Fall;8(4):66-71.
3
Linking mechanistic and behavioral responses to sublethal esfenvalerate exposure in the endangered delta smelt; Hypomesus transpacificus (Fam. Osmeridae).

本文引用的文献

1
Diagnosis of organic acidemias by gas chromatography--mass spectrometry.通过气相色谱-质谱联用技术诊断有机酸血症。
Lab Res Methods Biol Med. 1981;6:1-158.
2
Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture.胡勒氏综合征：组织培养中酸性粘多糖的生物合成。
Proc Natl Acad Sci U S A. 1966 Oct;56(4):1310-6. doi: 10.1073/pnas.56.4.1310.
3
N-acetylaspartic aciduria in a child with a progressive cerebral atrophy.一名患有进行性脑萎缩儿童的N-乙酰天门冬氨酸尿症
将亚致死浓度的 esfenvalerate 暴露与濒危的尖嘴杜父鱼（Osmeridae 科）的机制和行为反应联系起来。
BMC Genomics. 2009 Dec 15;10:608. doi: 10.1186/1471-2164-10-608.
4
Nur7 is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS.Nur7是小鼠天冬氨酸酰基转移酶基因中的一个无义突变，可导致中枢神经系统海绵状变性。
J Neurosci. 2008 Nov 5;28(45):11537-49. doi: 10.1523/JNEUROSCI.1490-08.2008.
5
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.非犹太裔卡纳万病患者中天冬氨酸酰基转移酶基因新突变的鉴定与特征分析。
J Inherit Metab Dis. 2002 Nov;25(7):557-70. doi: 10.1023/a:1022091223498.
6
Biochemistry and molecular biology of Canavan disease.卡纳万病的生物化学与分子生物学
Neurochem Res. 1999 Apr;24(4):507-13. doi: 10.1023/a:1022531829100.
7
Canavan disease. Analysis of the nature of the metabolic lesions responsible for development of the observed clinical symptoms.卡纳万病。对导致所观察到的临床症状发展的代谢性病变性质的分析。
J Mol Neurosci. 1997 Oct;9(2):109-25. doi: 10.1007/BF02736855.
8
Effects of severe global ischemia on N-acetylaspartate and other metabolites in the rat brain.严重全脑缺血对大鼠脑内N-乙酰天门冬氨酸及其他代谢物的影响。
Magn Reson Med. 1997 Jun;37(6):851-7. doi: 10.1002/mrm.1910370608.
9
Canavan disease: biochemical and molecular studies.卡纳万病：生物化学与分子研究
J Inherit Metab Dis. 1993;16(4):744-52. doi: 10.1007/BF00711906.
10
Cranial ultrasound findings in aspartoacylase deficiency (Canavan disease).天冬氨酸酰基转移酶缺乏症（卡纳万病）的头颅超声检查结果
Pediatr Radiol. 1993;23(5):395-7. doi: 10.1007/BF02011970.
Clin Chim Acta. 1986 Aug 15;158(3):217-27. doi: 10.1016/0009-8981(86)90285-8.
4
Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.Canavan病患者的天冬氨酸酰基转移酶缺乏症和N-乙酰天冬氨酸尿症。
Am J Med Genet. 1988 Feb;29(2):463-71. doi: 10.1002/ajmg.1320290234.
5
N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy.
J Inherit Metab Dis. 1988;11(3):307-8. doi: 10.1007/BF01800378.
6
N-acetylaspartic aciduria due to aspartoacylase deficiency--a new aetiology of childhood leukodystrophy.天冬氨酸酰基转移酶缺乏所致的N-乙酰天冬氨酸尿症——儿童脑白质营养不良的一种新病因。
J Inherit Metab Dis. 1987;10(2):135-41. doi: 10.1007/BF01800038.