Jonas A J
Biochem Biophys Res Commun. 1986 May 29;137(1):175-81. doi: 10.1016/0006-291x(86)91192-7.
Purified rat liver lysosomes were incubated in 0.2 M sialic acid resulting in an increase in lysosomal free sialic acid of 3.8 +/- 1.5 nmol/unit beta hexosaminidase. Sialic acid loss by these lysosomes was stimulated 2-3 fold by 25 mM sodium phosphate. Loss of sialic acid by lysosomes from cultured human diploid fibroblasts was similar to that observed in rat liver lysosomes while loss of sialic acid by lysosomes from cultured fibroblasts from a patient with infantile Salla disease occurred much more slowly. Salla disease appears to be the consequence of defective lysosomal transport of sialic acid and is analogous to cystinosis, a disorder of lysosomal amino acid transport.
将纯化的大鼠肝脏溶酶体在0.2M唾液酸中孵育，导致溶酶体游离唾液酸增加3.8±1.5nmol/单位β-己糖胺酶。25mM磷酸钠可使这些溶酶体的唾液酸损失增加2至3倍。培养的人二倍体成纤维细胞的溶酶体唾液酸损失与大鼠肝脏溶酶体中观察到的相似，而来自患有婴儿型萨勒病患者的培养成纤维细胞的溶酶体唾液酸损失则要慢得多。萨勒病似乎是溶酶体唾液酸转运缺陷的结果，类似于胱氨酸病，一种溶酶体氨基酸转运障碍。
