Miller A L, Stein R, Sundsmo M, Yeh R Y
Biochem J. 1986 Sep 1;238(2):589-95. doi: 10.1042/bj2380589.
Chediak-Higashi-syndrome cultured skin fibroblasts were used to study the possible involvement of lysosomal enzymes and lysosomal dysfunction in this disorder. Our evidence indicated that Chediak-Higashi fibroblasts displayed a significant decrease in the specific activity of the acidic alpha-D-mannosidase (pH 4.2) compared with normal controls. Additional studies revealed a small, but significant, decrease in the rate of degradation of 125I-labelled beta-D-glucosidase that had been endocytosed into Chediak-Higashi cells.
切迪阿克-希加希综合征培养的皮肤成纤维细胞被用于研究溶酶体酶和溶酶体功能障碍在该疾病中可能的参与情况。我们的证据表明，与正常对照相比，切迪阿克-希加希成纤维细胞中酸性α-D-甘露糖苷酶（pH 4.2）的比活性显著降低。进一步的研究显示，内吞到切迪阿克-希加希细胞中的125I标记的β-D-葡萄糖苷酶的降解速率有小幅但显著的降低。
