黏脂贮积症IV型患者及对照中激活蛋白对GM3神经节苷脂唾液酸酶活性的刺激作用

Stimulation of GM3 ganglioside sialidase activity by an activator protein in patients with mucolipidosis IV and controls.

作者信息

Ben-Yoseph Y, Mitchell D A, Yager R M, Pretzlaff R K

机构信息

Department of Pediatrics, Wayne State University School of Medicine, Detroit, Mich.

出版信息

Enzyme. 1991;45(1-2):23-9. doi: 10.1159/000468861.

DOI:10.1159/000468861

PMID:1806363

Abstract

An activator protein that stimulates the enzymic hydrolysis of sialic acid from gangliosides by ganglioside sialidase was fractionated from human liver. This fraction was distinct from those stimulating the hydrolysis of galactose from GM1 ganglioside by beta-galactosidase and the hydrolysis of N-acetylgalactosamine from GM2 ganglioside by hexosaminidase A. This fraction was highly specific for the hydrolysis of sialic acid from GM3 ganglioside, and was equally effective in fibroblasts from patients with mucolipidosis IV and in fibroblasts from controls.

摘要

从人肝脏中分离出一种激活蛋白，该蛋白可刺激神经节苷脂唾液酸酶从神经节苷脂中酶解唾液酸。该组分与刺激β-半乳糖苷酶从GM1神经节苷脂中水解半乳糖以及己糖胺酶A从GM2神经节苷脂中水解N-乙酰半乳糖胺的组分不同。该组分对从GM3神经节苷脂中水解唾液酸具有高度特异性，并且在IV型粘脂贮积症患者的成纤维细胞和对照的成纤维细胞中同样有效。