黏脂贮积症II型和III型患者成纤维细胞中甘露聚糖的甘露糖残基磷酸化不足。
Deficient phosphorylation of mannose residues of mannan in fibroblasts of patients with mucolipidoses II and III.
作者信息
Ben-Yoseph Y, Hahn L C, DeFranco C L, Nadler H L
出版信息
Biochem J. 1981 Feb 1;193(2):651-4. doi: 10.1042/bj1930651.
Abstract
Incorporation of 32P from [gamma 32P]ATP into mannan could not be detected in homogenates of cultivated skin fibroblasts from patients with mucolipidosis II, and accounted for only up to 10% of normal control activity in cell lysates from patients with mucolipidosis III. Parents of patients with mucolipidosis II demonstrated 60-70% of normal control activity. On high-voltage electrophoresis, the hydrolysed mannan from reactions performed with normal cells, over the pH range 5.5-7.5, yielded a radioactive band migrating with the same mobility as mannose 6-phosphate, whereas no such product could be demonstrated in fibroblasts of patients with mucolipidosis II.
摘要
在II型粘脂贮积症患者培养的皮肤成纤维细胞匀浆中，未检测到[γ-32P]ATP的32P掺入甘露聚糖，在III型粘脂贮积症患者的细胞裂解物中，其活性仅为正常对照活性的10%。II型粘脂贮积症患者的父母表现出正常对照活性的60-70%。在高压电泳中，在pH值5.5-7.5范围内，用正常细胞进行反应得到的水解甘露聚糖产生了一条放射性条带，其迁移率与6-磷酸甘露糖相同，而在II型粘脂贮积症患者的成纤维细胞中未检测到此类产物。
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本文引用的文献
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Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.成纤维细胞中溶酶体酶的生物合成。以高分子量前体形式合成。
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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。
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