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。 - Suppr

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超能文献

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

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

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

Argininosuccinate lyase deficiency.

Genet Med. 2012 May;14(5):501-7. doi: 10.1038/gim.2011.1. Epub 2012 Jan 5.

A mouse model of argininosuccinic aciduria: biochemical characterization.

Mol Genet Metab. 2003 Jan;78(1):11-6. doi: 10.1016/s1096-7192(02)00206-8.

Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.

Hum Genet. 2008 Oct;124(3):303.

Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.

Hum Genet. 2008 Oct;124(3):303.

[Argininosuccinate lyase deficiency].

Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):179-81.

Use of continuous hemodiafiltration for the treatment of a neonate with hyperammonemia secondary to argininosuccinate lyase (ASAL) deficiency.

Indian J Pediatr. 2013 Sep;80(9):794-5. doi: 10.1007/s12098-013-1004-0. Epub 2013 Mar 29.

Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.

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.

Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.

Proc Natl Acad Sci U S A. 1978 Dec;75(12):6159-62. doi: 10.1073/pnas.75.12.6159.

Citrate therapy in argininosuccinate lyase deficiency.

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

Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency.

Mol Genet Metab Rep. 2019 Oct 24;21:100525. doi: 10.1016/j.ymgmr.2019.100525. eCollection 2019 Dec.

Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in in a Chinese Han Patient with Argininosuccinate Lyase Deficiency.

Biomed Res Int. 2019 Apr 30;2019:3530198. doi: 10.1155/2019/3530198. eCollection 2019.

NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.

BMC Med Genet. 2016 Feb 3;17:9. doi: 10.1186/s12881-016-0273-7.

Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.

J Biol Chem. 2013 Nov 29;288(48):34599-611. doi: 10.1074/jbc.M113.503128. Epub 2013 Oct 17.

Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.

J Inherit Metab Dis. 2012 Jan;35(1):133-40. doi: 10.1007/s10545-011-9357-x. Epub 2011 Jun 11.

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia.

BMC Res Notes. 2010 Mar 18;3:79. doi: 10.1186/1756-0500-3-79.

Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.

J Biol Chem. 2009 Oct 16;284(42):28926-34. doi: 10.1074/jbc.M109.050195. Epub 2009 Aug 24.

Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria.

J Inherit Metab Dis. 2005;28(6):877-83. doi: 10.1007/s10545-005-0081-2.

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.

J Inherit Metab Dis. 2002 Sep;25(5):399-410. doi: 10.1023/a:1020108002877.

Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.

J Inherit Metab Dis. 2001 Jun;24(3):370-8. doi: 10.1023/a:1010560704092.

本文引用的文献

Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site.

J Inherit Metab Dis. 1998;21 Suppl 1:72-85. doi: 10.1023/a:1005361724967.

Human argininosuccinate lyase: a structural basis for intragenic complementation.

Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9063-8. doi: 10.1073/pnas.94.17.9063.

Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles.

J Biol Chem. 1997 Mar 7;272(10):6777-83. doi: 10.1074/jbc.272.10.6777.

Cloning and sequence analysis of cDNA for human argininosuccinate lyase.

Proc Natl Acad Sci U S A. 1986 Oct;83(19):7211-5. doi: 10.1073/pnas.83.19.7211.

Gene sharing by delta-crystallin and argininosuccinate lyase.

Proc Natl Acad Sci U S A. 1988 May;85(10):3479-83. doi: 10.1073/pnas.85.10.3479.

cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase.

Genomics. 1989 Jan;4(1):53-9. doi: 10.1016/0888-7543(89)90314-5.

Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.

Proc Natl Acad Sci U S A. 1990 Dec;87(24):9625-9. doi: 10.1073/pnas.87.24.9625.

Characterization of the human argininosuccinate lyase gene and analysis of exon skipping.

Genomics. 1991 May;10(1):126-32. doi: 10.1016/0888-7543(91)90492-w.

Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.

J Biol Chem. 1991 Mar 15;266(8):5286-90.

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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

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

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

Argininosuccinate lyase deficiency.

Genet Med. 2012 May;14(5):501-7. doi: 10.1038/gim.2011.1. Epub 2012 Jan 5.

A mouse model of argininosuccinic aciduria: biochemical characterization.

Mol Genet Metab. 2003 Jan;78(1):11-6. doi: 10.1016/s1096-7192(02)00206-8.

Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.

Hum Genet. 2008 Oct;124(3):303.

Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.

Hum Genet. 2008 Oct;124(3):303.

[Argininosuccinate lyase deficiency].

Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):179-81.

Use of continuous hemodiafiltration for the treatment of a neonate with hyperammonemia secondary to argininosuccinate lyase (ASAL) deficiency.

Indian J Pediatr. 2013 Sep;80(9):794-5. doi: 10.1007/s12098-013-1004-0. Epub 2013 Mar 29.

Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.

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.

Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.

Proc Natl Acad Sci U S A. 1978 Dec;75(12):6159-62. doi: 10.1073/pnas.75.12.6159.

Citrate therapy in argininosuccinate lyase deficiency.

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

Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency.

Mol Genet Metab Rep. 2019 Oct 24;21:100525. doi: 10.1016/j.ymgmr.2019.100525. eCollection 2019 Dec.

Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in in a Chinese Han Patient with Argininosuccinate Lyase Deficiency.

Biomed Res Int. 2019 Apr 30;2019:3530198. doi: 10.1155/2019/3530198. eCollection 2019.

NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.

BMC Med Genet. 2016 Feb 3;17:9. doi: 10.1186/s12881-016-0273-7.

Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.

J Biol Chem. 2013 Nov 29;288(48):34599-611. doi: 10.1074/jbc.M113.503128. Epub 2013 Oct 17.

Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.

J Inherit Metab Dis. 2012 Jan;35(1):133-40. doi: 10.1007/s10545-011-9357-x. Epub 2011 Jun 11.

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia.

BMC Res Notes. 2010 Mar 18;3:79. doi: 10.1186/1756-0500-3-79.

Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.

J Biol Chem. 2009 Oct 16;284(42):28926-34. doi: 10.1074/jbc.M109.050195. Epub 2009 Aug 24.

Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria.

J Inherit Metab Dis. 2005;28(6):877-83. doi: 10.1007/s10545-005-0081-2.

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.

J Inherit Metab Dis. 2002 Sep;25(5):399-410. doi: 10.1023/a:1020108002877.

Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.

J Inherit Metab Dis. 2001 Jun;24(3):370-8. doi: 10.1023/a:1010560704092.

本文引用的文献

Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site.

J Inherit Metab Dis. 1998;21 Suppl 1:72-85. doi: 10.1023/a:1005361724967.

Human argininosuccinate lyase: a structural basis for intragenic complementation.

Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9063-8. doi: 10.1073/pnas.94.17.9063.

Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles.

J Biol Chem. 1997 Mar 7;272(10):6777-83. doi: 10.1074/jbc.272.10.6777.

Cloning and sequence analysis of cDNA for human argininosuccinate lyase.

Proc Natl Acad Sci U S A. 1986 Oct;83(19):7211-5. doi: 10.1073/pnas.83.19.7211.

Gene sharing by delta-crystallin and argininosuccinate lyase.

Proc Natl Acad Sci U S A. 1988 May;85(10):3479-83. doi: 10.1073/pnas.85.10.3479.

cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase.

Genomics. 1989 Jan;4(1):53-9. doi: 10.1016/0888-7543(89)90314-5.

Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.

Proc Natl Acad Sci U S A. 1990 Dec;87(24):9625-9. doi: 10.1073/pnas.87.24.9625.

Characterization of the human argininosuccinate lyase gene and analysis of exon skipping.

Genomics. 1991 May;10(1):126-32. doi: 10.1016/0888-7543(91)90492-w.

Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.

J Biol Chem. 1991 Mar 15;266(8):5286-90.