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Canavan disease: molecular basis of aspartoacylase deficiency.

作者信息

Kaul R, Gao G P, Balamurugan K, Matalon R

机构信息

Research Institute, Miami Children's Hospital, FL 33156.

出版信息

J Inherit Metab Dis. 1994;17(3):295-7. doi: 10.1007/BF00711811.

DOI:10.1007/BF00711811
PMID:7528829
Abstract
摘要

相似文献

1
Canavan disease: molecular basis of aspartoacylase deficiency.卡纳万病:天冬氨酸酰基转移酶缺乏的分子基础。
J Inherit Metab Dis. 1994;17(3):295-7. doi: 10.1007/BF00711811.
2
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.人天冬氨酸酰基转移酶cDNA的克隆及Canavan病中的一个常见错义突变
Nat Genet. 1993 Oct;5(2):118-23. doi: 10.1038/ng1093-118.
3
Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.非犹太裔卡纳万病患者中八个新突变的鉴定与表达
Am J Hum Genet. 1996 Jul;59(1):95-102.
4
The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.非犹太裔患者中卡纳万病中天冬氨酸酰基转移酶基因突变谱。
J Inherit Metab Dis. 1999 Jun;22(4):531-4. doi: 10.1023/a:1005512524957.
5
Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.非犹太裔卡纳万病患者天冬氨酸酰基转移酶基因突变分析。
Adv Exp Med Biol. 2006;576:165-73; discussion 361-3. doi: 10.1007/0-387-30172-0_11.
6
The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel.以色列德系犹太人中天冬氨酸酰基转移酶基因C854突变的频率。
Am J Hum Genet. 1994 Aug;55(2):287-8.
7
Canavan disease: diagnosis and molecular analysis.卡纳万病:诊断与分子分析
Genet Test. 1997;1(1):21-5. doi: 10.1089/gte.1997.1.21.
8
A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico.天冬氨酸酰基转移酶基因的部分缺失是墨西哥一个家族中卡纳万病的病因。
J Med Genet. 2001 Mar;38(3):E9. doi: 10.1136/jmg.38.3.e9.
9
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.
10
Frequency of a DNA polymorphism at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in the Ashkenazi Jewish Population.天冬氨酸酰基转移酶基因中Y231位点DNA多态性的频率及其对阿什肯纳兹犹太人群中基于DNA的卡纳万病携带者检测的影响。
Hum Mutat. 1998;Suppl 1:S161-2. doi: 10.1002/humu.1380110154.

引用本文的文献

1
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
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.

本文引用的文献

1
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.
2
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.人天冬氨酸酰基转移酶cDNA的克隆及Canavan病中的一个常见错义突变
Nat Genet. 1993 Oct;5(2):118-23. doi: 10.1038/ng1093-118.
3
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.
4
SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease.
J Inherit Metab Dis. 1989;12 Suppl 2:329-31. doi: 10.1007/BF03335413.
5
Purification, characterization, and localization of aspartoacylase from bovine brain.
J Neurochem. 1991 Jan;56(1):129-35. doi: 10.1111/j.1471-4159.1991.tb02571.x.
6
Prenatal diagnosis of Canavan disease.
J Inherit Metab Dis. 1992;15(3):392-4. doi: 10.1007/BF02435985.