Maret A, Salvayre R, Negre A, Bes J C, Douste-Blazy L
Biol Cell. 1985;53(3):293-6. doi: 10.1111/j.1768-322x.1985.tb00376.x.
Epstein-Barr Virus transformed cell lines (LCL) were established from blood B-lymphocytes of patients affected with GM2-gangliosidoses variant O (Sandhoff disease, SD) and variant B (Tay-Sachs disease, TSD). LCL from SD showed a severe deficiency of activity of the major lysosomal beta-N-acetylhexosaminidase isoenzymes, Hex A and B; the residual activity was due to Hex S and Hex C. In LCL from TSD, the whole Hex activity was not deficient but isoenzyme composition was completely abnormal. Ultrastructural investigations showed the presence of pleiomorphic enlarged lysosomes appearing as clear vacuoles containing a finely fibrillo-granular material characteristic of the visceral lysosomal storage of gangliosidoses.
爱泼斯坦-巴尔病毒转化细胞系（LCL）是从患有GM2神经节苷脂沉积症O型变异型（桑德霍夫病，SD）和B型变异型（泰-萨克斯病，TSD）患者的血液B淋巴细胞中建立的。来自SD的LCL显示主要溶酶体β-N-乙酰己糖胺酶同工酶Hex A和Hex B的活性严重缺乏；残余活性归因于Hex S和Hex C。在来自TSD的LCL中，总Hex活性并不缺乏，但同工酶组成完全异常。超微结构研究显示存在多形性增大的溶酶体，表现为清亮的空泡，含有神经节苷脂内脏溶酶体储存特征性的细纤维颗粒物质。
