Okamura-Oho Y, Zhang S, Callahan J W
Division of Neurosciences, Hospital for Sick Children, Toronto, Ont., Canada.
Biochim Biophys Acta. 1994 Feb 22;1225(3):244-54. doi: 10.1016/0925-4439(94)90002-7.
Galactosialidosis is a heterogeneous disorder that is manifested in infantile, late infantile, juvenile/adult, and atypical forms. In every instance the primary defect is in the ability of protective protein to associate with beta-galactosidase and neuraminidase to protect them from intralysosomal proteolysis. The protective protein is in reality a serine protease that displays both cathepsin A and C-terminal deamidase activity. We summarize the major clinical features of each form, and the range of storage products accumulated. The concept of an intralysosomal complex containing beta-galactosidase and neuraminidase in addition to protective protein seems irrefutable but major gaps exist in our understanding of how the complex is formed and in what subcellular organelles, how it is sustained, and the protein domains contributed by the constituent enzymes that play a pivotal role in this process.
半乳糖唾液酸贮积症是一种异质性疾病，有婴儿型、晚婴儿型、青少年/成人型和非典型型。在每种情况下，主要缺陷在于保护蛋白与β-半乳糖苷酶和神经氨酸酶结合以保护它们免受溶酶体内蛋白水解的能力。保护蛋白实际上是一种丝氨酸蛋白酶，具有组织蛋白酶A和C末端脱酰胺酶活性。我们总结了每种类型的主要临床特征以及积累的储存产物范围。除保护蛋白外，溶酶体内含有β-半乳糖苷酶和神经氨酸酶的复合物这一概念似乎无可争议，但在我们对该复合物如何形成、在哪些亚细胞器中形成、如何维持以及组成酶在这一过程中起关键作用的蛋白质结构域的理解方面仍存在重大差距。
