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Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene.

作者信息

Linnebank M, Homberger A, Rapp B, Winter C, Marquardt T, Harms E, Koch H G

机构信息

Universität Kinderklinik Muenster, Germany.

出版信息

J Inherit Metab Dis. 2000 Jun;23(4):308-12. doi: 10.1023/a:1005690005439.

DOI:10.1023/a:1005690005439
PMID:10896281
Abstract
摘要

相似文献

1
Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene.精氨酸琥珀酸裂解酶缺乏症中的两种新突变（E86A、R113W）及人类精氨酸琥珀酸裂解酶基因高度可变剪接的证据。
J Inherit Metab Dis. 2000 Jun;23(4):308-12. doi: 10.1023/a:1005690005439.
2
Argininosuccinate lyase deficiency.精氨琥珀酸裂解酶缺乏症。
Genet Med. 2012 May;14(5):501-7. doi: 10.1038/gim.2011.1. Epub 2012 Jan 5.
3
A mouse model of argininosuccinic aciduria: biochemical characterization.精氨琥珀酸尿症小鼠模型：生化特征
Mol Genet Metab. 2003 Jan;78(1):11-6. doi: 10.1016/s1096-7192(02)00206-8.
4
Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.基因符号：ASL。疾病：精氨琥珀酸裂解酶缺乏症。
Hum Genet. 2008 Oct;124(3):303.
5
Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.基因符号：ASL。疾病：精氨琥珀酸裂解酶缺乏症。
Hum Genet. 2008 Oct;124(3):303.
6
[Argininosuccinate lyase deficiency].精氨基琥珀酸裂解酶缺乏症
Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):179-81.
7
Use of continuous hemodiafiltration for the treatment of a neonate with hyperammonemia secondary to argininosuccinate lyase (ASAL) deficiency.连续性血液透析滤过用于治疗因精氨琥珀酸裂解酶（ASAL）缺乏继发高氨血症的新生儿。
Indian J Pediatr. 2013 Sep;80(9):794-5. doi: 10.1007/s12098-013-1004-0. Epub 2013 Mar 29.
8
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.精氨琥珀酸裂解酶缺乏症-精氨琥珀酸尿症及其他。
Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):45-53. doi: 10.1002/ajmg.c.30289. Epub 2011 Feb 10.
9
Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.精氨基琥珀酸尿症：通过放射自显影片法将精氨基琥珀酸裂解酶基因定位于人类染色体7的pter至q22区域。
Proc Natl Acad Sci U S A. 1978 Dec;75(12):6159-62. doi: 10.1073/pnas.75.12.6159.
10
Citrate therapy in argininosuccinate lyase deficiency.精氨琥珀酸裂解酶缺乏症中的柠檬酸盐疗法。
J Pediatr. 1990 Jul;117(1 Pt 1):102-5. doi: 10.1016/s0022-3476(05)82456-4.

引用本文的文献

1
Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency.马来西亚精氨酸琥珀酸裂解酶（ASL）缺乏症患者突变的鉴定。
Mol Genet Metab Rep. 2019 Oct 24;21:100525. doi: 10.1016/j.ymgmr.2019.100525. eCollection 2019 Dec.
2
Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in in a Chinese Han Patient with Argininosuccinate Lyase Deficiency.全外显子组测序在中国汉族精氨琥珀酸裂解酶缺乏症患者中鉴定出一种新型复合杂合基因型。
Biomed Res Int. 2019 Apr 30;2019:3530198. doi: 10.1155/2019/3530198. eCollection 2019.
3
NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.

本文引用的文献

1
Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site.精氨琥珀酸裂解酶基因座的基因内互补：活性位点的重建
J Inherit Metab Dis. 1998;21 Suppl 1:72-85. doi: 10.1023/a:1005361724967.
2
Human argininosuccinate lyase: a structural basis for intragenic complementation.人精氨琥珀酸裂解酶：基因内互补的结构基础。
Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9063-8. doi: 10.1073/pnas.94.17.9063.
3
Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles.
精氨琥珀酸尿症的二代测序检测到一个驱动精氨琥珀酸裂解酶可变剪接的突变（D145G）：一项病例报告研究
BMC Med Genet. 2016 Feb 3;17:9. doi: 10.1186/s12881-016-0273-7.
4
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.理解精氨琥珀酸裂解酶转录变体在精氨琥珀酸尿症尿素循环障碍的临床和生化变异性中的作用。
J Biol Chem. 2013 Nov 29;288(48):34599-611. doi: 10.1074/jbc.M113.503128. Epub 2013 Oct 17.
5
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.突变精氨琥珀酸裂解酶的细菌表达显示精氨琥珀酸尿症中体外酶活性与临床表型的不完全相关性。
J Inherit Metab Dis. 2012 Jan;35(1):133-40. doi: 10.1007/s10545-011-9357-x. Epub 2011 Jun 11.
6
Novel mutations underlying argininosuccinic aciduria in Saudi Arabia.沙特阿拉伯瓜氨酸血症潜在的新突变。
BMC Res Notes. 2010 Mar 18;3:79. doi: 10.1186/1756-0500-3-79.
7
Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.酵母中的功能互补可实现对精氨琥珀酸裂解酶错义突变的分子特征分析。
J Biol Chem. 2009 Oct 16;284(42):28926-34. doi: 10.1074/jbc.M109.050195. Epub 2009 Aug 24.
8
Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria.沙特精氨琥珀酸尿症患者中一种常见新突变的鉴定。
J Inherit Metab Dis. 2005;28(6):877-83. doi: 10.1007/s10545-005-0081-2.
9
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.精氨琥珀酸尿症一种生化变异型的临床、酶学及分子遗传学特征：五个无亲缘关系家庭的产前及产后诊断
J Inherit Metab Dis. 2002 Sep;25(5):399-410. doi: 10.1023/a:1020108002877.
10
Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.通过血清串联质谱法检测新生儿精氨琥珀酸裂解酶缺乏症
J Inherit Metab Dis. 2001 Jun;24(3):370-8. doi: 10.1023/a:1010560704092.
人类精氨琥珀酸裂解酶基因座的基因内互补。主要互补等位基因的鉴定。
J Biol Chem. 1997 Mar 7;272(10):6777-83. doi: 10.1074/jbc.272.10.6777.
4
Cloning and sequence analysis of cDNA for human argininosuccinate lyase.人精氨琥珀酸裂解酶cDNA的克隆与序列分析
Proc Natl Acad Sci U S A. 1986 Oct;83(19):7211-5. doi: 10.1073/pnas.83.19.7211.
5
Gene sharing by delta-crystallin and argininosuccinate lyase.δ-晶状体蛋白与精氨琥珀酸裂解酶的基因共享
Proc Natl Acad Sci U S A. 1988 May;85(10):3479-83. doi: 10.1073/pnas.85.10.3479.
6
cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase.精氨琥珀酸裂解酶的互补DNA序列、种间比较及基因定位分析
Genomics. 1989 Jan;4(1):53-9. doi: 10.1016/0888-7543(89)90314-5.
7
Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.人精氨琥珀酸裂解酶的分子分析：突变体特征及编码区的可变剪接
Proc Natl Acad Sci U S A. 1990 Dec;87(24):9625-9. doi: 10.1073/pnas.87.24.9625.
8
Characterization of the human argininosuccinate lyase gene and analysis of exon skipping.人精氨琥珀酸裂解酶基因的表征及外显子跳跃分析
Genomics. 1991 May;10(1):126-32. doi: 10.1016/0888-7543(91)90492-w.
9
Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.精氨琥珀酸裂解酶基因中自然发生的和定点突变的分析。
J Biol Chem. 1991 Mar 15;266(8):5286-90.