The Gangliosidoses: Comparative Features and Research Applications
The Gangliosidoses: Comparative Features and Research Applications
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神经节苷脂沉积症：比较特征和研究应用
DOI：
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发表时间：
1979
期刊：
影响因子：
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通讯作者：
G. H. Baker
中科院分区：
文献类型：
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作者：
H. J. Baker;G. D. Reynolds;S. Walkley;N. Cox;G. H. Baker
神经节苷脂储存疾病是一种遗传性的溶酶体水解酶缺陷，导致神经节苷脂和其他复杂代谢产物在溶酶体内积聚。神经节病常见于人、猫、牛、狗和猪。在所有物种中，这些疾病的临床特征是神经功能持续恶化。神经元、血管内皮细胞和其他细胞中可见溶酶体肥大，并伴有特征性的超微结构包涵体。确诊需要对储藏产物和酶缺乏进行生化鉴定。动物中的神经节苷脂是人类溶酶体疾病的重要模型，可能是维持某些纯种家畜种群的重要并发症。
Ganglioside storage diseases are inherited defects of lysosomal hydrolases that result in intralysosomal accumulation of gangliosides and other complex metabolites. Gangliosidoses occur in man, cats, cattle, dogs and swine. In all species, these diseases are characterized clinically by relentlessly progressive neurological deterioration. Lysosomal hypertrophy with characteristic ultrastructural inclusions occur in neurons, endothelial and other cells. Definitive diagnosis requires biochemical identification of the storage product and enzyme deficiency. Gangliosidoses in animals are important models of human lysosomal diseases and may be a significant complication in the maintenance of certain purebred stocks of domestic animals.