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Abnormal mRNA and inactive polypeptide in a patient with prolidase deficiency.

作者信息

Tanoue A, Endo F, Awata H, Matsuda I

机构信息

Department of Pediatrics, Kumamoto University Medical School, Japan.

出版信息

J Inherit Metab Dis. 1991;14(5):777-82. doi: 10.1007/BF01799949.

DOI:10.1007/BF01799949
PMID:1779623
Abstract
摘要

相似文献

1
Abnormal mRNA and inactive polypeptide in a patient with prolidase deficiency.一名患有氨肽酶缺乏症患者的异常信使核糖核酸和无活性多肽。
J Inherit Metab Dis. 1991;14(5):777-82. doi: 10.1007/BF01799949.
2
Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms. A 0.8-kb deletion with breakpoints at the short, direct repeat in the PEPD gene and synthesis of abnormal messenger RNA and inactive polypeptide.患有脯氨酰二肽酶缺乏症且有或无临床症状的同胞的分子缺陷。PEPD基因中短的直接重复序列处有一个0.8kb的缺失，导致异常信使核糖核酸的合成及无活性多肽的产生。
J Clin Invest. 1991 Apr;87(4):1171-6. doi: 10.1172/JCI115115.
3
Deduced amino acid sequence of human prolidase and molecular analyses of prolidase deficiency.
J Inherit Metab Dis. 1989;12(3):351-4. doi: 10.1007/BF01799240.
4
Biochemical basis of prolidase deficiency. Polypeptide and RNA phenotypes and the relation to clinical phenotypes.脯氨酰肽酶缺乏症的生化基础。多肽和RNA表型及其与临床表型的关系。
J Clin Invest. 1990 Jan;85(1):162-9. doi: 10.1172/JCI114407.
5
Molecular basis of prolidase (peptidase D) deficiency.脯氨酰二肽酶（肽酶D）缺乏症的分子基础。
Mol Biol Med. 1991 Feb;8(1):117-27.
6
A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells.两名多肽阳性脯氨酰二肽酶缺乏症患者成纤维细胞中脯氨酰二肽酶基因的单核苷酸变化。突变酶在NIH 3T3细胞中的表达。
J Clin Invest. 1990 Jul;86(1):351-5. doi: 10.1172/JCI114708.
7
Cloning of mouse prolidase cDNA: predominant expression of prolidase mRNA in kidney.小鼠脯氨酰二肽酶cDNA的克隆：脯氨酰二肽酶mRNA在肾脏中的优势表达
Biochim Biophys Acta. 1996 Jul 31;1308(1):15-6. doi: 10.1016/0167-4781(96)00084-x.
8
Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations.人脯氨酰二肽酶及脯氨酰二肽酶缺乏症：参与脯氨酸循环的酶的特性及其突变影响概述
Amino Acids. 2008 Nov;35(4):739-52. doi: 10.1007/s00726-008-0055-4. Epub 2008 Mar 14.
9
A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency.一名患有肽酶缺乏症的日本患者中PEPD基因的一种新型无义突变。
J Hum Genet. 2000;45(2):102-4. doi: 10.1007/s100380050023.
10
The role of prolidase as an enzyme participating in the metabolism of collagen.脯氨酰寡肽酶作为一种参与胶原蛋白代谢的酶的作用。
Rocz Akad Med Bialymst. 1996;41(2):149-60.

引用本文的文献

1
Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship.在两名无亲缘关系的患者中导致脯氨酰二肽酶缺乏症的一种新PEPD等位基因的特征分析：自然发生的突变作为研究结构-功能关系的工具
J Hum Genet. 2004;49(9):500-506. doi: 10.1007/s10038-004-0180-1. Epub 2004 Aug 11.

本文引用的文献

1
Expression and regulation of Escherichia coli lacZ gene fusions in mammalian cells.大肠杆菌lacZ基因融合体在哺乳动物细胞中的表达与调控
J Mol Appl Genet. 1983;2(1):101-9.
2
Two distinct enhancers with different cell specificities coexist in the regulatory region of polyoma.两种具有不同细胞特异性的不同增强子共存于多瘤病毒的调控区域。
Cell. 1984 Dec;39(3 Pt 2):653-62. doi: 10.1016/0092-8674(84)90472-0.
3
Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday.
移码突变与遗传密码。本文谨献给西奥多修斯·杜布赞斯基教授，以庆祝他66岁生日。
Cold Spring Harb Symp Quant Biol. 1966;31:77-84. doi: 10.1101/sqb.1966.031.01.014.
4
Immunochemical studies of human prolidase with monoclonal and polyclonal antibodies: absence of the subunit of prolidase in erythrocytes from a patient with prolidase deficiency.用单克隆抗体和多克隆抗体对人氨肽酶进行的免疫化学研究：氨肽酶缺乏症患者红细胞中不存在氨肽酶亚基。
Pediatr Res. 1987 Dec;22(6):627-33. doi: 10.1203/00006450-198712000-00002.
5
New host cell system for regulated simian virus 40 DNA replication.用于调控猿猴病毒40 DNA复制的新型宿主细胞系统。
Mol Cell Biol. 1985 Nov;5(11):3231-40. doi: 10.1128/mcb.5.11.3231-3240.1985.
6
Primary structure and gene localization of human prolidase.人氨肽酶的一级结构和基因定位
J Biol Chem. 1989 Mar 15;264(8):4476-81.
7
Expression vector system based on the chicken beta-actin promoter directs efficient production of interleukin-5.基于鸡β-肌动蛋白启动子的表达载体系统可高效产生白细胞介素-5。
Gene. 1989 Jul 15;79(2):269-77. doi: 10.1016/0378-1119(89)90209-6.
8
A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells.两名多肽阳性脯氨酰二肽酶缺乏症患者成纤维细胞中脯氨酰二肽酶基因的单核苷酸变化。突变酶在NIH 3T3细胞中的表达。
J Clin Invest. 1990 Jul;86(1):351-5. doi: 10.1172/JCI114708.
9
Structural organization of the gene for human prolidase (peptidase D) and demonstration of a partial gene deletion in a patient with prolidase deficiency.人氨肽酶（肽酶D）基因的结构组织以及一名氨肽酶缺乏症患者部分基因缺失的证明。
J Biol Chem. 1990 Jul 5;265(19):11306-11.
10
Biochemical basis of prolidase deficiency. Polypeptide and RNA phenotypes and the relation to clinical phenotypes.脯氨酰肽酶缺乏症的生化基础。多肽和RNA表型及其与临床表型的关系。
J Clin Invest. 1990 Jan;85(1):162-9. doi: 10.1172/JCI114407.