Alhadeff J A, Tennant L, O'brien J S
Clin Genet. 1976 Aug;10(2NA-NA-760903-760909):63-72. doi: 10.1111/j.1399-0004.1976.tb00014.x.
The isoenzyme pattern of alpha-L-fucosidase was studied by isoelectric focusing in livers from seven patients with cystic fibrosis and in normal and pathological (GM1-gangliosidosis, Type II and Sanfilippo disease) controls. The controls had very reproducible patterns consisting of seven isoenzymes of alpha-L-fucosidase with the most neutral from (I) representing a small proportion of the total activity. All seven of the cystic fibrosis livers had altered alpha-L-fucosidase isoenzyme patterns. The chemical relationship of the seven isoenzymes of normal liver alpha-L-fucosidase was investigated using neuramindase. The five most acidic forms of alpha-L-fucosidase appear to be related to the most neutral form by sialic acid residues. Since the isoenzymes of liver alpha-L-fucosidase appear to be related by sialic acid residues, it is possible that the altered alpha-L-fucosidase isoenzyme patterns found in cystic fibrosis livers may result from aberrant sialylation.
通过等电聚焦研究了7例囊性纤维化患者肝脏以及正常和病理（GM1神经节苷脂贮积症II型和Sanfilippo病）对照肝脏中α-L-岩藻糖苷酶的同工酶模式。对照具有非常可重复的模式，由α-L-岩藻糖苷酶的七种同工酶组成，其中最中性的形式（I）占总活性的一小部分。所有7例囊性纤维化肝脏的α-L-岩藻糖苷酶同工酶模式均发生改变。使用神经氨酸酶研究了正常肝脏α-L-岩藻糖苷酶七种同工酶的化学关系。α-L-岩藻糖苷酶的五种最酸性形式似乎通过唾液酸残基与最中性形式相关。由于肝脏α-L-岩藻糖苷酶的同工酶似乎通过唾液酸残基相关，因此囊性纤维化肝脏中发现的α-L-岩藻糖苷酶同工酶模式改变可能是异常唾液酸化的结果。
