Hasilik A, Waheed A, Cantz M, von Figura K
Eur J Biochem. 1982 Feb;122(1):119-23. doi: 10.1111/j.1432-1033.1982.tb05856.x.
The incorporation of [3H]leucine and [32P]phosphate into three lysosomal enzymes, cathepsin D, beta-hexosaminidase and arylsulfatase A by fibroblasts from six patients affected with mucolipidosis III was determined. In the mutant cells the incorporation of 32P in the enzymes was reduced by 70-97% as compared to controls. The residual phosphorylation of lysosomal enzymes is definitely higher than in fibroblasts from patients with mucolipidosis II, where apparently non-phosphorylated enzymes are formed. In mucolipidosis III the major part of the newly formed enzymes accumulated extracellularly and the cellular enzymes were recovered mainly in their processed forms. In mucolipidosis III arylsulfatase A and the processed forms of cathepsin D exhibited a heterogeneity that was not observed in controls. beta-Hexosaminidase and cathepsin D secreted by mucolipidosis III fibroblasts contained only a small amount of phosphorylated oligosaccharides with either one or two phosphate groups per oligosaccharide. As in controls the major fraction of phosphate was present as acid-labile phosphodiester resistant to alkaline phosphatase. The residual phosphorylation of lysosomal enzymes may be related to the partial intracellular retention and processing of these enzymes in fibroblasts from patients with mucolipidosis III.
测定了来自6例黏脂贮积症III患者的成纤维细胞将[3H]亮氨酸和[32P]磷酸盐掺入三种溶酶体酶（组织蛋白酶D、β-己糖胺酶和芳基硫酸酯酶A）的情况。与对照相比，在突变细胞中，酶中32P的掺入减少了70 - 97%。溶酶体酶的残余磷酸化明显高于黏脂贮积症II患者的成纤维细胞，后者显然形成了非磷酸化的酶。在黏脂贮积症III中，新形成的酶的主要部分在细胞外积累，细胞内的酶主要以其加工形式回收。在黏脂贮积症III中，芳基硫酸酯酶A和组织蛋白酶D的加工形式表现出一种在对照中未观察到的异质性。黏脂贮积症III成纤维细胞分泌的β-己糖胺酶和组织蛋白酶D仅含有少量每寡糖带有一个或两个磷酸基团的磷酸化寡糖。与对照一样，大部分磷酸盐以对碱性磷酸酶有抗性的酸不稳定磷酸二酯形式存在。溶酶体酶的残余磷酸化可能与黏脂贮积症III患者成纤维细胞中这些酶的部分细胞内保留和加工有关。
