GALACTOSIALIDOSIS - SIMULTANEOUS DEFICIENCY OF ESTERASE, CARBOXY-TERMINAL DEAMIDASE AND ACID CARBOXYPEPTIDASE ACTIVITIES

被引：33

作者：

KASE, R ^{[1
]}

ITOH, K ^{[1
]}

TAKIYAMA, N ^{[1
]}

OSHIMA, A ^{[1
]}

SAKURABA, H ^{[1
]}

SUZUKI, Y ^{[1
]}

机构：

[1] SAISEIKAI UTSUNOMIYA HOSP,DEPT PEDIAT,UTSUNOMIYA 320,JAPAN

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1990年 / 172卷 / 03期

关键词：

D O I：

10.1016/0006-291X(90)91572-A

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Esterase and deamidase activities at pH 7.0 and carboxypeptidase activity at pH 5.7 were markedly low or deficient in seven galactosialidosis fibroblast strains with deficient activity of "protective protein" for lysosomal β-galactosidase and neuraminidase. No simultaneous deficiency of these three enzyme activities was observed in other lysosomal disease fibroblasts examined in this study. This result strongly suggests that "protective protein" is identical with a multifunctional protein with esterase/deamidase/carboxypeptidase activities and its mutation in galactosialidosis results in deficiency of these three enzyme activities. © 1990.

引用

页码：1175 / 1179

页数：5

共 17 条

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