丝氨酸到苯丙氨酸的替换导致1型原发性高草酸尿症患者的丙氨酸：乙醛酸转氨酶催化活性和免疫反应性丧失。 - Suppr

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超能文献

A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1.

作者信息

Minatogawa Y, Tone S, Allsop J, Purdue P E, Takada Y, Danpur C J, Kido R

机构信息

Department of Biochemistry, Wakayama Medical College, Japan.

出版信息

Hum Mol Genet. 1992 Nov;1(8):643-4. doi: 10.1093/hmg/1.8.643.

DOI:10.1093/hmg/1.8.643

PMID:1301173

Abstract

摘要

相似文献

A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1.丝氨酸到苯丙氨酸的替换导致1型原发性高草酸尿症患者的丙氨酸：乙醛酸转氨酶催化活性和免疫反应性丧失。

Hum Mol Genet. 1992 Nov;1(8):643-4. doi: 10.1093/hmg/1.8.643.

Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation.原发性高草酸尿症患者中过氧化物酶体L-丙氨酸：乙醛酸氨基转移酶错误定位于线粒体取决于一个点突变激活一个隐藏的线粒体靶向序列。

Proc Natl Acad Sci U S A. 1991 Dec 1;88(23):10900-4. doi: 10.1073/pnas.88.23.10900.

Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.1型原发性高草酸尿症中与丙氨酸/乙醛酸氨基转移酶过氧化物酶体至线粒体错误靶向相关的突变鉴定。

J Cell Biol. 1990 Dec;111(6 Pt 1):2341-51. doi: 10.1083/jcb.111.6.2341.

[Molecular pathology of type 1 primary hyperoxaluria].[1型原发性高草酸尿症的分子病理学]

Nephrologie. 1994;15(6):375-80.

Immunological heterogeneity of hepatic alanine:glyoxylate aminotransferase in primary hyperoxaluria type 1.1型原发性高草酸尿症中肝脏丙氨酸：乙醛酸转氨酶的免疫异质性

FEBS Lett. 1987 Sep 28;222(1):17-20. doi: 10.1016/0014-5793(87)80183-7.

Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon.人类过氧化物酶体L-丙氨酸：乙醛酸转氨酶。起始密码子的点突变导致线粒体靶向信号的进化性丧失。

Biochem J. 1990 Jun 1;268(2):517-20. doi: 10.1042/bj2680517.

Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: a novel type of primary hyperoxaluria.非丙氨酸：乙醛酸转氨酶缺陷所致的高草酸尿症伴高甘油酸尿症：一种新型原发性高草酸尿症。

Kidney Int. 1996 Nov;50(5):1747-52. doi: 10.1038/ki.1996.494.

Diversity in residual alanine glyoxylate aminotransferase activity in hyperoxaluria type I: correlation with pyridoxine responsiveness.I型高草酸尿症中残余丙氨酸乙醛酸氨基转移酶活性的多样性：与维生素B6反应性的相关性。

J Inherit Metab Dis. 1988;11 Suppl 2:208-11. doi: 10.1007/BF01804237.

An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1.丙氨酸：乙醛酸转氨酶基因中的内含子重复有助于鉴定1型原发性高草酸尿症复合杂合子患者的突变。

Hum Genet. 1991 Aug;87(4):394-6. doi: 10.1007/BF00197154.

Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine:glyoxylate aminotransferase gene.人丙氨酸：乙醛酸转氨酶基因内含子中一个多态性串联重复序列的分子特征及临床应用

Hum Genet. 1994 Jul;94(1):55-64. doi: 10.1007/BF02272842.

引用本文的文献

Crystal structure of the S187F variant of human liver alanine: glyoxylate [corrected] aminotransferase associated with primary hyperoxaluria type I and its functional implications.人肝丙氨酸：乙醛酸[更正]氨基转移酶 S187F 变异体的晶体结构与Ⅰ型原发性高草酸尿症相关及其功能意义。

Proteins. 2013 Aug;81(8):1457-65. doi: 10.1002/prot.24300. Epub 2013 Jun 1.

A novel mutation of human liver alanine:glyoxylate aminotransferase causes primary hyperoxaluria type 1: immunohistochemical quantification and subcellular distribution.一种新型的人肝丙氨酸：乙醛酸氨基转移酶突变导致 1 型原发性高草酸尿症：免疫组织化学定量和亚细胞分布。

Acta Histochem Cytochem. 2012 Apr 26;45(2):121-9. doi: 10.1267/ahc.11042. Epub 2012 Mar 10.

Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I.生化分析有助于确定突变对全酶和/或脱辅基酶形式以及与Ⅰ型原发性高草酸尿症相关的丙氨酸：乙醛酸氨基转移酶变异体的区域的影响。

Mol Genet Metab. 2012 Jan;105(1):132-40. doi: 10.1016/j.ymgme.2011.09.033. Epub 2011 Oct 5.

Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT).1型原发性高草酸尿症：丙氨酸：乙醛酸转氨酶基因（AGXT）突变和多态性的诊断意义

J Inherit Metab Dis. 1997 Sep;20(5):689-96. doi: 10.1023/a:1005326510239.

Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.1型原发性高草酸尿症：AGXT基因第7外显子的一组新突变

J Med Genet. 1997 Jun;34(6):489-92. doi: 10.1136/jmg.34.6.489.

Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.涉及丙氨酸：乙醛酸氨基转移酶过氧化物酶体至线粒体靶向错误和过氧化物酶体内聚集的复杂1型原发性高草酸尿症表型的酶学和突变分析

Am J Hum Genet. 1993 Aug;53(2):417-32.

Hum Genet. 1994 Jul;94(1):55-64. doi: 10.1007/BF02272842.

Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity.1型原发性高草酸尿症：基因型和表型异质性

J Inherit Metab Dis. 1994;17(4):487-99. doi: 10.1007/BF00711363.

Molecular and cell biology of primary hyperoxaluria type 1.1型原发性高草酸尿症的分子与细胞生物学

Clin Investig. 1994 Sep;72(9):725-7. doi: 10.1007/BF00213004.

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