Bach G, Friedman R, Weissmann B, Neufeld E F
Proc Natl Acad Sci U S A. 1972 Aug;69(8):2048-51. doi: 10.1073/pnas.69.8.2048.
Skin fibroblasts cultured from patients affected with the Hurler or Scheie syndromes (mucopoly-saccharidoses I or V, respectively) have a functional deficiency of a protein required for catabolism of sulfated mucopolysaccharide that has been designated the "Hurler corrective factor." We now show Hurler factor purified from normal human urine to be associated with alpha-L-iduronidase activity. Cell lines deficient in Hurler corrective factor have no detectable activity of alpha-L-iduronidase (less than 3% of that found in cells from individuals of other genotypes). Such correspondence indicates that Hurler corrective factor and alpha-L-iduronidase are the same entity. Correction of deficient cells is accompanied by an efficient uptake of alpha-L-iduronidase from the medium.
从患有胡尔勒综合征或舍埃综合征(分别为黏多糖贮积症I型或V型)的患者身上培养的皮肤成纤维细胞,对于硫酸化黏多糖分解代谢所需的一种蛋白质存在功能缺陷,该蛋白质被命名为“胡尔勒校正因子”。我们现在发现,从正常人尿液中纯化出的胡尔勒因子与α-L-艾杜糖醛酸酶活性相关。缺乏胡尔勒校正因子的细胞系没有可检测到的α-L-艾杜糖醛酸酶活性(不到其他基因型个体细胞中该酶活性的3%)。这种对应关系表明,胡尔勒校正因子和α-L-艾杜糖醛酸酶是同一实体。缺陷细胞的校正伴随着从培养基中有效摄取α-L-艾杜糖醛酸酶。