Animal Models of Genetic Disorders of Myelin
Animal Models of Genetic Disorders of Myelin
复制标题
髓磷脂遗传性疾病的动物模型
DOI：
10.1007/978-1-4757-1830-0_14
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发表时间：
1984
影响因子：
4.7
通讯作者：
S. Greenfield
中科院分区：
文献类型：
--
作者：
E. Hogan;S. Greenfield
通过对动物的研究，可以更好地了解髓磷脂的组装和维持，在这些动物中，由于遗传变异、有毒物质暴露、免疫攻击、病毒感染、营养或内分泌缺乏以及身体或循环损伤，这些过程受到干扰。突变动物特别适合生化方法，因为它们可以获得遗传同质性、足够的实验使用数量以及对其营养和环境的严格控制。在过去的十年中，人们对几种具有髓磷脂形成遗传缺陷的小鼠突变体进行了大量研究。首先认识到的是 jiutpy、quaking 和髓磷脂合成缺陷突变体，对它们的研究对于髓磷脂成分的鉴定以及髓磷脂代谢和髓磷脂生成的主要特征的阐明做出了重要贡献。近年来，其他几种小鼠突变体已被描述并显示出具有特殊特征的髓鞘质疾病，进一步揭示了髓鞘质的生物学特性。其中最值得注意的是颤抖者，它几乎完全缺乏髓磷脂碱性蛋白； twitcher，类似于人类球状细胞脑白质病，严重缺乏半乳糖神经酰胺 s-半乳糖苷酶；颤抖，原发性周围神经和施万细胞疾病；和肌营养不良症，其神经根段有髓鞘化。所有这些突变体在实验研究中都有一个共同的优点，即病理学仅限于髓磷脂，它们的遗传性质预示着蛋白质结构可能的异常，可以进行连续发育分析，并且已经显示出髓磷脂疾病的表型和基因型的差异。
Improved understanding of the assembly and maintenance of myelin is afforded by the study of animals in which interference with these processes occurs as a result of genetic variation, toxic exposure, immunological attack, viral infection, nutritional or endocrine deficiency, and physical or circulatory insult. Mutant animals are particularly suitable for the biochemical approach, since they make it possible to obtain genetic homogeneity, sufficient quantities for experimental use, and strict control of their nutrition and environment. During the past decade, considerable work has been carried out on several mouse mutants with genetic defects in and limited to the formation of myelin. The first recognized were the jiutpy, quaking, and myelin synthesis deficiency mutants, and study of them contributed importantly to the identification of myelin constituents and clarification of major features of myelin metabolism and myelinogenesis. In recent years, several additional mouse mutants have been described and shown to have myelin disorders with special characteristics that further reveal the biology of myelin. The most notable of these are shiverer, which has an almost complete lack of myelin basic protein; twitcher, which resembles human globoid cell leukodystm ophy in having a severe deficiency of galactosylceramide s-galactosidase; trembler, which has a primary disorder of peripheral nerve and Schwann cell; and muscular dystrophy, which has amyelinated segments of nerve roots. All these mutants share advantages for experimental study in that the pathology is limited to the myelin, their genetic nature presages likely abnormality of protein structure, serial developmental analysis is possible, and dilfereuees in both phenotype and genotype of myelin disorders have been shown.
神经突变小鼠中枢髓磷脂的径向成分。
DOI：
--
发表时间：
1982
期刊：
Laboratory investigation; a journal of technical methods and pathology
影响因子：
--
作者：
Nagara,H;Suzuki,K
通讯作者：
Suzuki,K
抽搐小鼠肾脏中半乳糖神经酰胺的异常积累。
DOI：
10.1016/0006-291x(83)91053-7
发表时间：
1983
影响因子：
3.1
作者：
Igisu,H;Takahashi,H;Suzuki,K;Suzuki,K
通讯作者：
Suzuki,K