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Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts.

作者信息

Thomas G H, Tiller G E, Reynolds L W, Miller C S, Bace J W

出版信息

Biochem Biophys Res Commun. 1976 Jul 12;71(1):188-95. doi: 10.1016/0006-291x(76)90267-9.

DOI:10.1016/0006-291x(76)90267-9
PMID:61029
Abstract
摘要

相似文献

1
Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts.
Biochem Biophys Res Commun. 1976 Jul 12;71(1):188-95. doi: 10.1016/0006-291x(76)90267-9.
2
Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts.黏脂贮积症 I:培养的成纤维细胞中唾液酸含量增加及α-N-乙酰神经氨酸酶缺乏
Biochem Biophys Res Commun. 1977 Jan 24;74(2):732-8. doi: 10.1016/0006-291x(77)90363-1.
3
Cell disease: desialylation of beta-hexosaminidase and its effect on uptake by fibroblasts.
Biochim Biophys Acta. 1978 Feb 13;539(1):31-6. doi: 10.1016/0304-4165(78)90118-6.
4
Defective lysosomal release of glycoprotein-derived sialic acid in fibroblasts from patients with sialic acid storage disease.唾液酸贮积症患者成纤维细胞中糖蛋白衍生唾液酸的溶酶体释放缺陷。
Biochem J. 1988 Feb 15;250(1):261-7. doi: 10.1042/bj2500261.
5
Biochemical comparison of the dysmorphic type with the normosomatic type of sialidosis.
Clin Chim Acta. 1980 May 9;103(3):343-7. doi: 10.1016/0009-8981(80)90153-9.
6
Mucolipidosis I--a sialidosis.黏脂贮积症I型——一种唾液酸沉积症。
Am J Med Genet. 1977;1(1):21-9. doi: 10.1002/ajmg.1320010104.
7
[Studies on sialidosis and mucolipidosis. Properties of neuraminidase in cultured skin fibroblasts].[涎酸沉积症和粘脂贮积症的研究。培养皮肤成纤维细胞中神经氨酸酶的特性]
Biochim Biophys Acta. 1982 Sep 7;706(2):212-20. doi: 10.1016/0167-4838(82)90489-7.
8
Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency.IV型黏脂贮积症,一种由于神经节苷脂唾液酸酶缺乏引起的唾液酸脂沉积症。
J Inherit Metab Dis. 1982;5(4):218-24. doi: 10.1007/BF02179146.
9
Mucolipidosis I: studies of sialidase activity and a prenatal diagnosis.黏脂贮积症I型:唾液酸酶活性研究及产前诊断
Clin Chim Acta. 1981 Feb 5;109(3):313-24. doi: 10.1016/0009-8981(81)90317-x.
10
Accumulation of [3H]sialyl-conjugates in sialidosis (sialidase-deficient) fibroblasts cultured in the presence of [3H]-N-acetylmannosamine.在存在[³H]-N-乙酰甘露糖胺的情况下培养的涎酸沉积症(唾液酸酶缺乏)成纤维细胞中[³H]唾液酸共轭物的积累。
J Inherit Metab Dis. 1986;9(1):79-88. doi: 10.1007/BF01813907.

引用本文的文献

1
Quantitative Proteome Analysis of Mouse Liver Lysosomes Provides Evidence for Mannose 6-phosphate-independent Targeting Mechanisms of Acid Hydrolases in Mucolipidosis II.小鼠肝脏溶酶体的定量蛋白质组分析为黏脂贮积症II中酸性水解酶的非甘露糖6-磷酸靶向机制提供了证据。
Mol Cell Proteomics. 2017 Mar;16(3):438-450. doi: 10.1074/mcp.M116.063636. Epub 2017 Jan 6.
2
Chick embryo fibroblasts produce two forms of hyaluronidase.鸡胚成纤维细胞产生两种形式的透明质酸酶。
J Cell Biol. 1980 May;85(2):248-57. doi: 10.1083/jcb.85.2.248.
3
Influence of sialic acid on cell surface properties in I-cell disease fibroblasts.
唾液酸对I-细胞病成纤维细胞表面特性的影响。
In Vitro. 1981 Jul;17(7):588-92. doi: 10.1007/BF02618456.
4
Cellular localization of neuraminidases in cultured human fibroblasts.神经氨酸酶在培养的人成纤维细胞中的细胞定位
Biochem J. 1981 Sep 15;198(3):505-8. doi: 10.1042/bj1980505.
5
Mutant defective in processing of an enzyme located in the lysosome-like vacuole of Saccharomyces cerevisiae.在酿酒酵母类溶酶体液泡中一种酶的加工过程存在缺陷的突变体。
Proc Natl Acad Sci U S A. 1981 Jan;78(1):435-9. doi: 10.1073/pnas.78.1.435.
6
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.
7
Cherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adult.樱桃红斑肌阵挛综合征与α-神经氨酸酶缺乏症:一名成年人的神经生理学、药理学及生物化学研究
J Neurol Neurosurg Psychiatry. 1980 Oct;43(10):934-40. doi: 10.1136/jnnp.43.10.934.
8
Correction of I-cell defect by hybridization with lysosomal enzyme deficient human fibroblasts.通过与溶酶体酶缺陷型人成纤维细胞杂交纠正I-细胞缺陷。
Am J Hum Genet. 1980 Jul;32(4):519-28.
9
Juvenile neurogenic muscle atrophy with lysosomal enzyme deficiencies: new disease or variant of mucopolysaccharidosis?伴有溶酶体酶缺乏的青少年神经源性肌肉萎缩:新疾病还是黏多糖贮积症的变异型?
J Neurol. 1983;229(1):45-54. doi: 10.1007/BF00313495.
10
Two clonal cell populations (mosaicism) in a 46,XY male with mucolipidosis II (I-cell disease)--an autosomal recessive disorder.一名患有黏脂贮积症II型(I型细胞病)的46,XY男性体内存在两个克隆细胞群(嵌合体)——这是一种常染色体隐性疾病。
Am J Hum Genet. 1982 Jul;34(4):611-22.