Price D L, Becher M W, Wong P C, Borchelt D R, Lee M K, Sisodia S S
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205-2196, USA.
Brain Pathol. 1996 Oct;6(4):467-80. doi: 10.1111/j.1750-3639.1996.tb00876.x.
In recent years, the identification of mutations in specific genes in several inherited neurodegenerative disorders, combined with advances in the field of transgenic methods, has provided neuroscientists and neuropathologists with information and strategies to develop transgenic (Tg) models to study human diseases. These approaches have proved to be extraordinarily useful in modeling familial forms of amyotrophic lateral sclerosis (FALS) and Alzheimer's disease (FAD) and the spectrum of triplet-repeat disorders. Investigations of these models have begun to provide new insights into the roles of disease-specific mutant proteins and the pathogenic mechanisms of disease as well as opportunities to test therapeutic interventions.
近年来，在几种遗传性神经退行性疾病中特定基因突变的鉴定，结合转基因方法领域的进展，为神经科学家和神经病理学家提供了信息和策略，以开发转基因（Tg）模型来研究人类疾病。这些方法已被证明在模拟家族性肌萎缩侧索硬化症（FALS）、阿尔茨海默病（FAD）以及三联体重复疾病谱方面非常有用。对这些模型的研究已开始为疾病特异性突变蛋白的作用、疾病的致病机制提供新的见解，以及为测试治疗干预措施提供机会。
