人成纤维细胞中β-半乳糖苷酶/神经氨酸酶联合缺乏症的纠正。 - Suppr

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Correction of combined beta-galactosidase/neuraminidase deficiency in human fibroblasts.

作者信息

Hoogeveen A, d'Azzo A, Brossmer R, Galjaard H

出版信息

Biochem Biophys Res Commun. 1981 Nov 16;103(1):292-300. doi: 10.1016/0006-291x(81)91692-2.

DOI:10.1016/0006-291x(81)91692-2

PMID:6797429

Abstract

摘要

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Correction of combined beta-galactosidase/neuraminidase deficiency in human fibroblasts.人成纤维细胞中β-半乳糖苷酶/神经氨酸酶联合缺乏症的纠正。

Biochem Biophys Res Commun. 1981 Nov 16;103(1):292-300. doi: 10.1016/0006-291x(81)91692-2.

Complementation, cross correction, and drug correction studies of combined beta-galactosidase neuraminidase deficiency in human fibroblasts.人类成纤维细胞中β-半乳糖苷酶神经氨酸酶联合缺乏的互补、交叉校正及药物校正研究。

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The complementation of beta-galactosidase in fused cells of mucolipidosis II with another variants of beta-galactosidase deficiency using new single cell enzyme assay.利用新型单细胞酶检测法，在黏脂贮积症II型融合细胞中β-半乳糖苷酶与β-半乳糖苷酶缺乏的其他变体之间的互补作用。

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Enhanced proteolytic degradation of normal beta-galactosidase in the lysosomal storage disease with combined beta-galactosidase and neuraminidase deficiency.在伴有β-半乳糖苷酶和神经氨酸酶联合缺乏的溶酶体贮积病中，正常β-半乳糖苷酶的蛋白水解降解增强。

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Neuraminidase deficiency and accumulation of sialic acid in lymphocytes in adult type sialidosis with partial beta-galactosidase deficiency.成人型唾液酸沉积症伴部分β-半乳糖苷酶缺乏时的神经氨酸酶缺乏及淋巴细胞中唾液酸的蓄积

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Adult mucolipidosis with beta-galactosidase and neuraminidase deficiencies.伴有β-半乳糖苷酶和神经氨酸酶缺乏的成人粘脂贮积症

J Neurol Sci. 1980 May;46(2):245-54. doi: 10.1016/0022-510x(80)90083-0.

Beta-galactosidase-neuraminidase deficiency: restoration of beta-galactosidase activity by protease inhibitors.β-半乳糖苷酶-神经氨酸酶缺乏症：蛋白酶抑制剂恢复β-半乳糖苷酶活性

J Biochem. 1981 Jul;90(1):271-3. doi: 10.1093/oxfordjournals.jbchem.a133462.

Effects of thiol protease inhibitors on intracellular degradation of exogenous beta-galactosidase in cultured human skin fibroblasts.

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Turnover of beta-galactosidase in fibroblasts from patients with genetically different types of beta-galactosidase deficiency.不同基因类型β-半乳糖苷酶缺乏症患者成纤维细胞中β-半乳糖苷酶的周转率

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Galactosialidosis: historic aspects and overview of investigated and emerging treatment options.半乳糖唾液酸贮积症：历史回顾及已研究和新出现的治疗选择概述

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Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.人类β-半乳糖苷酶和神经氨酸酶联合缺乏的分子缺陷

Proc Natl Acad Sci U S A. 1982 Aug;79(15):4535-9. doi: 10.1073/pnas.79.15.4535.

The effects of sucrose loading on lysosomal hydrolases.蔗糖负荷对溶酶体水解酶的影响。

Mol Cell Biochem. 1984;60(1):83-98. doi: 10.1007/BF00226302.

The chromosomal localization of human beta-galactosidase revisited: a locus for beta-galactosidase on human chromosome 3 and for its protective protein on human chromosome 22.人类β-半乳糖苷酶的染色体定位再探讨：人类3号染色体上的β-半乳糖苷酶基因座及22号染色体上其保护蛋白的基因座

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Heterogeneity of lysosomal enzymes in cultured normal and sialidosis type II human fibroblasts and the effect of ammonium chloride on this heterogeneity.培养的正常人和II型唾液酸沉积症患者人成纤维细胞中溶酶体酶的异质性以及氯化铵对这种异质性的影响。

Mol Cell Biochem. 1985 May;67(1):25-30. doi: 10.1007/BF00220982.

Galactosialidosis: molecular heterogeneity in biosynthesis and processing of protective protein for beta-galactosidase.

Hum Genet. 1988 Dec;80(4):329-32. doi: 10.1007/BF00273645.

Purification and characterization of sialic acid containing materials accumulated in cultured skin fibroblasts from a patient with type II sialidosis.

J Inherit Metab Dis. 1987;10(1):33-47. doi: 10.1007/BF01799486.

Ganglioside GM1 metabolism in living human fibroblasts with beta-galactosidase deficiency.β-半乳糖苷酶缺乏的人活体成纤维细胞中神经节苷脂GM1的代谢

Hum Genet. 1986 May;73(1):35-8. doi: 10.1007/BF00292661.

Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase-deficiency disorders.唾液酸沉积症和半乳糖唾液酸沉积症：与神经氨酸酶缺乏症相关的两个基因的染色体定位

Proc Natl Acad Sci U S A. 1986 Mar;83(6):1817-21. doi: 10.1073/pnas.83.6.1817.

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Am J Pathol. 1989 Feb;134(2):263-70.

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