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1
Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes.在人类中，两种不同的基因编码δ-氨基乙酰丙酸合酶：管家基因和红系基因的cDNA核苷酸序列。
Nucleic Acids Res. 1990 Dec 11;18(23):7187-8. doi: 10.1093/nar/18.23.7187.
2
Expression of delta-aminolevulinate synthase in avian cells: separate genes encode erythroid-specific and nonspecific isozymes.δ-氨基乙酰丙酸合酶在禽类细胞中的表达：不同基因编码红细胞特异性和非特异性同工酶。
Proc Natl Acad Sci U S A. 1989 Feb;86(3):792-6. doi: 10.1073/pnas.86.3.792.
3
Structure and regulation of the chicken erythroid delta-aminolevulinate synthase gene.鸡红细胞δ-氨基乙酰丙酸合酶基因的结构与调控
Nucleic Acids Res. 1994 Apr 11;22(7):1226-33. doi: 10.1093/nar/22.7.1226.
4
[Structure and tissue-specific expression of erythroid type delta-aminolevulinate synthase: relation to erythroid-specific transcription factors].
Seikagaku. 1992 Dec;64(12):1432-7.
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Nucleotide sequence of mouse 5-aminolevulinic acid synthase cDNA and expression of its gene in hepatic and erythroid tissues.小鼠5-氨基酮戊酸合酶cDNA的核苷酸序列及其基因在肝脏和红细胞组织中的表达。
Gene. 1986;48(1):55-63. doi: 10.1016/0378-1119(86)90351-3.
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Isolation of recombinant cDNAs encoding chicken erythroid delta-aminolevulinate synthase.编码鸡红细胞δ-氨基-γ-酮戊酸合酶的重组cDNA的分离
Proc Natl Acad Sci U S A. 1985 Jun;82(11):3702-6. doi: 10.1073/pnas.82.11.3702.
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Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome.人δ-氨基-γ-酮戊酸合酶：管家基因定位于3p21，红系特异性基因定位于X染色体。
Genomics. 1990 Jun;7(2):207-14. doi: 10.1016/0888-7543(90)90542-3.
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Structure, turnover, and heme-mediated suppression of the level of mRNA encoding rat liver delta-aminolevulinate synthase.大鼠肝脏δ-氨基乙酰丙酸合酶编码mRNA水平的结构、周转及血红素介导的抑制作用
J Biol Chem. 1988 Nov 5;263(31):15973-9.
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Heme biosynthesis in mammalian systems: evidence of a Schiff base linkage between the pyridoxal 5'-phosphate cofactor and a lysine residue in 5-aminolevulinate synthase.哺乳动物系统中的血红素生物合成：5'-磷酸吡哆醛辅因子与5-氨基乙酰丙酸合酶中赖氨酸残基之间席夫碱连接的证据。
Protein Sci. 1993 Nov;2(11):1959-65. doi: 10.1002/pro.5560021117.
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Comparison of the beluga whale (Delphinapterus leucas) expressed genes for 5-aminolevulinate synthase with those in other vertebrates.
Comp Biochem Physiol B Biochem Mol Biol. 1999 Jun;123(2):163-74. doi: 10.1016/s0305-0491(99)00052-8.

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Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the gene leading to X-linked sideroblastic anemia-a family study.病例报告：外显子11中一个新的11碱基对缺失导致该基因C端移码，引发X连锁铁粒幼细胞贫血——一项家系研究。
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Elucidating the Role of Human ALAS2 C-terminal Mutations Resulting in Loss of Function and Disease.阐明导致功能丧失和疾病的人类 ALAS2 C 末端突变的作用。
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5-aminolevulinic acid (ALA) deficiency causes impaired glucose tolerance and insulin resistance coincident with an attenuation of mitochondrial function in aged mice.5-氨基乙酰丙酸（ALA）缺乏会导致老年小鼠的葡萄糖耐量受损和胰岛素抵抗，同时伴有线粒体功能的减弱。
PLoS One. 2018 Jan 24;13(1):e0189593. doi: 10.1371/journal.pone.0189593. eCollection 2018.
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Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia.红系细胞及先天性铁粒幼细胞贫血患者的铁代谢
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J Clin Transl Hepatol. 2015 Mar;3(1):17-26. doi: 10.14218/JCTH.2014.00039. Epub 2015 Mar 15.
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Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release.与X连锁原卟啉症相关的人类红细胞5-氨基酮戊酸合酶突变破坏构象平衡并增强产物释放。
Biochemistry. 2015 Sep 15;54(36):5617-31. doi: 10.1021/acs.biochem.5b00407. Epub 2015 Sep 2.
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Novel biomarkers for pre-diabetes identified by metabolomics.代谢组学鉴定的糖尿病前期新型生物标志物。
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Hypoxia up-regulates expression of hemoglobin in alveolar epithelial cells.低氧上调肺泡上皮细胞中血红蛋白的表达。
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本文引用的文献

1
Evidence for erythroid and nonerythroid forms of delta-aminolevulinate synthetase.δ-氨基-γ-酮戊酸合成酶的红系和非红系形式的证据。
Arch Biochem Biophys. 1981 Feb;206(2):380-91. doi: 10.1016/0003-9861(81)90105-3.
2
Isolation of a cDNA clone for human antithrombin III.人抗凝血酶III的cDNA克隆的分离
J Biol Chem. 1983 Jul 10;258(13):8389-94.
3
Sequence of human 5-aminolevulinate synthase cDNA.人类5-氨基乙酰丙酸合酶cDNA序列。
Nucleic Acids Res. 1987 Oct 26;15(20):8563. doi: 10.1093/nar/15.20.8563.
4
Nucleotide sequence of mouse 5-aminolevulinic acid synthase cDNA and expression of its gene in hepatic and erythroid tissues.小鼠5-氨基酮戊酸合酶cDNA的核苷酸序列及其基因在肝脏和红细胞组织中的表达。
Gene. 1986;48(1):55-63. doi: 10.1016/0378-1119(86)90351-3.
5
5-Aminolevulinate synthase is at 3p21 and thus not the primary defect in X-linked sideroblastic anemia.5-氨基酮戊酸合酶位于3p21，因此不是X连锁铁粒幼细胞贫血的主要缺陷。
Am J Hum Genet. 1988 Sep;43(3):331-5.
6
Molecular cloning of the cDNA for human erythrocyte beta-spectrin.人红细胞β-血影蛋白cDNA的分子克隆
Blood. 1988 Jul;72(1):328-34.
7
Structure, turnover, and heme-mediated suppression of the level of mRNA encoding rat liver delta-aminolevulinate synthase.大鼠肝脏δ-氨基乙酰丙酸合酶编码mRNA水平的结构、周转及血红素介导的抑制作用
J Biol Chem. 1988 Nov 5;263(31):15973-9.
8
An immunochemical study of delta-aminolevulinate synthase and delta-aminolevulinate dehydratase in liver and erythroid cells of rat.大鼠肝脏和红细胞中δ-氨基乙酰丙酸合酶及δ-氨基乙酰丙酸脱水酶的免疫化学研究
Arch Biochem Biophys. 1986 Feb 15;245(1):76-83. doi: 10.1016/0003-9861(86)90191-8.
9
Expression of delta-aminolevulinate synthase in avian cells: separate genes encode erythroid-specific and nonspecific isozymes.δ-氨基乙酰丙酸合酶在禽类细胞中的表达：不同基因编码红细胞特异性和非特异性同工酶。
Proc Natl Acad Sci U S A. 1989 Feb;86(3):792-6. doi: 10.1073/pnas.86.3.792.
10
Structure of a mouse erythroid 5-aminolevulinate synthase gene and mapping of erythroid-specific DNAse I hypersensitive sites.小鼠红系5-氨基酮戊酸合酶基因的结构及红系特异性DNA酶I超敏位点的定位
Nucleic Acids Res. 1989 Sep 12;17(17):7013-28. doi: 10.1093/nar/17.17.7013.

Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes.

作者信息

Bishop D F

机构信息

Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, NY 10029.

出版信息

Nucleic Acids Res. 1990 Dec 11;18(23):7187-8. doi: 10.1093/nar/18.23.7187.

DOI:10.1093/nar/18.23.7187
PMID:2263504
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC332832/
Abstract
摘要