苷酶的作用和弹性蛋白结合蛋白溶酶体和nonlysosomal复合物GM1-gangliosidosis患者。
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Caciotti,他妈,Boneh A, d 'Azzo,费德里科•,Parini R, Antuzzi d, Bardelli T, Nosi d, Kimonis V, Zammarchi E,莫龙一个
苷酶的作用和弹性蛋白结合蛋白溶酶体和nonlysosomal复合物GM1-gangliosidosis患者。
哼Mutat。2005年3月,25 (3):285 - 92。
- PubMed ID
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15714521 (在PubMed]
- 文摘
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G (M1) -gangliosidosis是一种溶酶体储存障碍(GLB1)缺乏β-半乳糖所致。GLB1基因产生GLB1溶酶体酶和弹性蛋白结合蛋白(EBP),参与弹性纤维沉积。GLB1形式复杂的保护蛋白质组织蛋白酶(车牌提取),α神经氨酸酶(NEU1)和半乳糖胺6-sulphate硫酸酯酶(GALNS)溶酶体内部,而EBP结合车牌提取和NEU1在细胞表面。我们研究了GLB1和EBP突变蛋白的功能通过分析临床、遗传和蜂窝数据11 G (M1) -gangliosidosis病人。他们的分子分析,其次是表达研究,导致识别的四个新和10 GLB1突变。一些常见的氨基酸替换(c。1445 g > A (p.Arg482H), c。622 c > T (p.Arg208His), c。175 c > T (p.Arg59Cys)和c。176 g > A (p.Arg59His)] GLB1酶在场的几个病人,地中海的起源,提出一个共同的起源。免疫印迹分析对GLB1 EBP,车牌提取蛋白质表明,确定突变影响GLB1酶活性和/或稳定。 The c.1445G>A (p.Arg482His), c.175C>T (p.Arg59Cys), c.733+2T>C, c.1736G>A (p.Gly579Asp), and c.1051C>T (p.Arg351X) GLB1 mutations, affect the stabilization of PPCA probably because they hamper the interaction between GLB1/EBP and PPCA within the multiprotein complex. The amount of EBP was normal, but the detection of impaired elastogenesis in such patients suggests an alteration in its function. We conclude that the presence of genetic lesions in both GLB1 and EBP coding region does not directly predict impaired elastogenesis and that elastic fiber assembly has to be evaluated specifically in each case. Nevertheless, the degree of EBP involvement may be linked to specific clinical findings.