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Deficient L-ornithine: 2-oxoacid aminotransferase activity in cultured fibroblasts from a patient with gyrate atrophy of the retina.

作者信息

O'Donnell J J, Sandman R P, Martin S R

出版信息

Biochem Biophys Res Commun. 1977 Nov 21;79(2):396-9. doi: 10.1016/0006-291x(77)90170-x.

DOI:10.1016/0006-291x(77)90170-x
PMID:588272
Abstract
摘要

相似文献

1
Deficient L-ornithine: 2-oxoacid aminotransferase activity in cultured fibroblasts from a patient with gyrate atrophy of the retina.视网膜回旋性萎缩患者培养成纤维细胞中L-鸟氨酸：2-氧代酸转氨酶活性缺乏
Biochem Biophys Res Commun. 1977 Nov 21;79(2):396-9. doi: 10.1016/0006-291x(77)90170-x.
2
Gyrate atrophy of the retina: inborn error of L-ornithin:2-oxoacid aminotransferase.视网膜回旋状萎缩：L-鸟氨酸：2-氧代酸氨基转移酶的先天性缺陷。
Science. 1978 Apr 14;200(4338):200-1. doi: 10.1126/science.635581.
3
Gyrate atrophy of choroid and retina: deficient activity of ornithine ketoacid aminotransferase in cultured skin fibroblasts.脉络膜和视网膜的回旋状萎缩：培养的皮肤成纤维细胞中鸟氨酸酮酸氨基转移酶活性不足
N Engl J Med. 1977 Nov 24;297(21):1180. doi: 10.1056/nejm197711242972116.
4
L-Ornithine-ketoacid-transaminase deficiency in cultured fibroblasts of a patient with hyperornithinaemia and gyrate atrophy of the choroid and retina.一名患有高鸟氨酸血症及脉络膜和视网膜回旋状萎缩的患者的培养成纤维细胞中L-鸟氨酸-酮酸转氨酶缺乏症
Clin Chim Acta. 1977 Sep 1;79(2):371-7. doi: 10.1016/0009-8981(77)90431-4.
5
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.鸟氨酸酮酸转氨酶缺乏与视网膜脉络膜回旋性萎缩
Am J Hum Genet. 1978 Mar;30(2):174-9.
6
Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.脉络膜和视网膜的回旋状萎缩：转化淋巴细胞中鸟氨酸转氨酶缺乏
Proc Natl Acad Sci U S A. 1977 Nov;74(11):5159-61. doi: 10.1073/pnas.74.11.5159.
7
Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency.伴有网状色素性营养不良和鸟氨酸 - 酮酸转氨酶缺乏症的脉络膜和视网膜回旋状萎缩
Int Ophthalmol. 1978 Sep;1(1):49-56. doi: 10.1007/BF00133277.
8
Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retina.吡哆醇对两种脉络膜视网膜回旋性萎缩携带者成纤维细胞中鸟氨酸酮酸转氨酶活性的影响
Am J Hum Genet. 1988 Dec;43(6):929-33.
9
Hyperornithinemia and gyrate atrophy of choroid and retina. Report of a case.高鸟氨酸血症与脉络膜和视网膜的回旋状萎缩。病例报告。
Helv Paediatr Acta. 1978 Nov;33(4-5):429-33.
10
Hyperornithinaemia associated with gyrate atrophy of the choroid and retina: in vivo and in vitro response to vitamin B6.与脉络膜和视网膜回旋状萎缩相关的高鸟氨酸血症：对维生素B6的体内和体外反应
J Inherit Metab Dis. 1981;4(2):61-2. doi: 10.1007/BF02263591.

引用本文的文献

1
A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor.鸟氨酸转氨酶成熟序列中的单个氨基酸取代阻碍了前体进入线粒体。
Am J Hum Genet. 1995 Aug;57(2):284-91.
2
Gyrate atrophy of the choroid and retina with hyperornithinemia. Deficient formation of guanidinoacetic acid from arginine.伴有高鸟氨酸血症的脉络膜和视网膜回旋性萎缩。精氨酸生成胍基乙酸的过程存在缺陷。
J Clin Invest. 1980 Oct;66(4):684-7. doi: 10.1172/JCI109905.
3
Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6.
Am J Hum Genet. 1980 Jul;32(4):529-41.
4
Gyrate atrophy of the retina and choroid. Two methods for prenatal diagnosis.视网膜和脉络膜的回旋状萎缩。两种产前诊断方法。
Int Ophthalmol. 1981 Aug;4(1-2):33-6. doi: 10.1007/BF00139578.
5
Clinical research methodology in ophthalmology.眼科临床研究方法学
Trans Am Ophthalmol Soc. 1980;78:896-946.
6
Treatment of gyrate atrophy of the choroid and retina with low arginine diet.采用低精氨酸饮食治疗脉络膜视网膜回旋状萎缩
Trans Am Ophthalmol Soc. 1980;78:226-42.
7
Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics.伴有高鸟氨酸血症的脉络膜和视网膜回旋性萎缩：突变型肝脏L-鸟氨酸：2-氧代酸氨基转移酶动力学特征
J Clin Invest. 1981 Jun;67(6):1805-7. doi: 10.1172/jci110222.
8
Presence of ornithine ketoacid aminotransferase in human ocular tissues.鸟氨酸酮酸氨基转移酶在人眼组织中的存在。
Graefes Arch Clin Exp Ophthalmol. 1982;218(1):34-6. doi: 10.1007/BF02134098.
9
Gyrate atrophy of the choroid and retina. Approaches to therapy.脉络膜和视网膜的回旋状萎缩。治疗方法。
Int Ophthalmol. 1981 Aug;4(1-2):23-32. doi: 10.1007/BF00139577.
10
Decreased transport of ornithine across the inner mitochondrial membrane as a cause of hyperornithinaemia.鸟氨酸跨线粒体内膜转运减少作为高鸟氨酸血症的一个病因。
J Inherit Metab Dis. 1982;5(1):41-7. doi: 10.1007/BF01799753.