Molecular basis of ornithine transcarbamylase deficiency in spf and spf-ash mutant mice.

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作者信息

Ohtake A, Takayanagi M, Yamamoto S, Kakinuma H, Nakajima H, Tatibana M, Mori M

出版信息

J Inherit Metab Dis. 1986;9(3):289-91. doi: 10.1007/BF01799667.

DOI:10.1007/BF01799667

PMID:3099076

Abstract

摘要

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Molecular basis of ornithine transcarbamylase deficiency in spf and spf-ash mutant mice.

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Efficient mitochondrial import of newly synthesized ornithine transcarbamylase (OTC) and correction of secondary metabolic alterations in spf(ash) mice following gene therapy of OTC deficiency.新合成的鸟氨酸转氨甲酰酶（OTC）的高效线粒体导入以及在对OTC缺乏症进行基因治疗后spf(ash)小鼠继发性代谢改变的纠正。

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Interaction between murine spf-ash mutation and genetic background yields different metabolic phenotypes.小鼠spf-ash突变与遗传背景之间的相互作用产生了不同的代谢表型。

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本文引用的文献

Spontaneous animal models of ornithine transcarbamylase deficiency: studies on serum and urinary nitrogenous metabolites.

Adv Exp Med Biol. 1982;153:173-83. doi: 10.1007/978-1-4757-6903-6_23.

Ornithine transcarbamylase deficiencies in human males. Kinetic and immunochemical classification.人类男性中的鸟氨酸转氨甲酰酶缺乏症。动力学和免疫化学分类。

Biochim Biophys Acta. 1982 May 21;704(1):100-6. doi: 10.1016/0167-4838(82)90136-4.

Cell-free synthesis and transport of precursors of mutant ornithine carbamoyltransferases into mitochondria.突变型鸟氨酸氨甲酰基转移酶前体的无细胞合成及其向线粒体的转运

Biochim Biophys Acta. 1983 Nov 8;760(3):389-97. doi: 10.1016/0304-4165(83)90379-3.

Biogenesis of ornithine transcarbamylase in spfash mutant mice: two cytoplasmic precursors, one mitochondrial enzyme.无特定病原体（SPF）ASH突变小鼠中鸟氨酸转氨甲酰酶的生物合成：两种细胞质前体，一种线粒体酶。

Science. 1983 Oct 28;222(4622):426-8. doi: 10.1126/science.6623083.

Molecular cloning and nucleotide sequence of cDNA for rat ornithine carbamoyltransferase precursor.大鼠鸟氨酸氨甲酰基转移酶前体的cDNA的分子克隆及核苷酸序列

Proc Natl Acad Sci U S A. 1984 Dec;81(23):7412-6. doi: 10.1073/pnas.81.23.7412.

A new allele of the sparse fur gene in the mouse.小鼠中稀疏被毛基因的一个新等位基因。

J Hered. 1974 May-Jun;65(3):194-5. doi: 10.1093/oxfordjournals.jhered.a108500.

Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation.具有稀毛突变的小鼠中异常的鸟氨酸氨甲酰基转移酶

Proc Natl Acad Sci U S A. 1976 May;73(5):1693-7. doi: 10.1073/pnas.73.5.1693.

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