The missing link in lysosomal enzyme targeting.
作者信息
Sly W S
机构信息
Department of Biochemistry, St. Louis University School of Medicine, 1402 South Grand Boulevard, St. Louis, Missouri 63104, USA.
出版信息
J Clin Invest. 2000 Mar;105(5):563-4. doi: 10.1172/JCI9479.
Abstract
摘要
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The missing link in lysosomal enzyme targeting.溶酶体酶靶向中的缺失环节。
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Overexpression of mouse GlcNAc-1-phosphotransferase-gamma subunit in cells induced an I-cell-like phenotype of mucolipidosis.小鼠N-乙酰葡糖胺-1-磷酸转移酶γ亚基在细胞中的过表达诱导了黏脂贮积症的I型细胞样表型。
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Trafficking of lysosomal enzymes in normal and disease states.正常和疾病状态下溶酶体酶的运输
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本文引用的文献
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Mutant enzymatic and cytological phenotypes in cultured human fibroblasts.培养的人成纤维细胞中的突变酶学和细胞学表型。
Science. 1967 Aug 18;157(3790):804-6. doi: 10.1126/science.157.3790.804.
2
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC).变异型假胡勒氏多营养不良（黏脂贮积症IIIC）的分子基础
J Clin Invest. 2000 Mar;105(5):673-81. doi: 10.1172/JCI5826.
3
Purification and multimeric structure of bovine N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase.牛N-乙酰葡糖胺-1-磷酸二酯α-N-乙酰葡糖胺酶的纯化及多聚体结构
J Biol Chem. 1998 Sep 4;273(36):23203-10. doi: 10.1074/jbc.273.36.23203.
4
Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. I. Purification and subunit structure.牛UDP-N-乙酰葡糖胺：溶酶体酶N-乙酰葡糖胺-1-磷酸转移酶。I. 纯化及亚基结构
J Biol Chem. 1996 Dec 6;271(49):31437-45. doi: 10.1074/jbc.271.49.31437.
5
Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes.黏脂贮积症III型（假胡尔勒多营养不良症）一种变异型的鉴定：一种具有催化活性但无法磷酸化溶酶体酶的N-乙酰葡糖胺磷酸转移酶。
Proc Natl Acad Sci U S A. 1981 Dec;78(12):7773-7. doi: 10.1073/pnas.78.12.7773.
6
A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts.培养的成纤维细胞摄取溶酶体酶所需的识别标记。
Biochem Biophys Res Commun. 1974 Mar 15;57(1):55-61. doi: 10.1016/s0006-291x(74)80356-6.
7
A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes.关于I-细胞病的一种假说：有缺陷的水解酶无法进入溶酶体。
Biochem Biophys Res Commun. 1972 Nov 15;49(4):992-9. doi: 10.1016/0006-291x(72)90310-5.
8
Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture.对一例在组织培养中呈现I-细胞表型的软骨发育不良病例进行的临床、生化和超微结构研究。
J Pediatr. 1971 Sep;79(3):366-78. doi: 10.1016/s0022-3476(71)80143-9.
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Genetic heterogeneity in multiple lysosomal hydrolase deficiency.多种溶酶体水解酶缺乏症中的遗传异质性。
J Pediatr. 1974 Aug;85(2):192-8. doi: 10.1016/s0022-3476(74)80391-4.
10
The genetic mucolipidoses. Diagnosis and differential diagnosis.遗传性黏脂贮积症。诊断与鉴别诊断。
Humangenetik. 1970;9(2):113-39. doi: 10.1007/BF00278928.
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