Characterization of a new model of GM2-gangliosidosis (Sandhoff's disease) in Korat cats.
Characterization of a new model of GM2-gangliosidosis (Sandhoff's disease) in Korat cats.
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科拉特猫 GM2 神经节苷脂贮积症（桑德霍夫病）新模型的表征。
DOI：
10.1172/jci111997
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发表时间：
1985
期刊：
影响因子：
--
通讯作者：
Wu,PM
中科院分区：
文献类型：
--
作者：
Neuwelt,EA;Johnson,WG;Blank,NK;Pagel,MA;Maslen-McClure,C;McClure,MJ;Wu,PM
我们在Korat猫（最初从泰国进口）中发现了一种类似于人类Sandhoff病的疾病。谱系分析表明，这种疾病是美国Korat人的一种常染色体隐性遗传病。对一只受影响猫的尸检研究显示肝肿大，这在唯一其他已知的GM 2-神经节苷脂沉积症II型猫模型中未报告。组织学和超微结构评价显示典型的储存液泡。与对照组相比，受影响的大脑和肝脏中氨基己糖苷酶（HEX）A和B的活性明显不足。肝提取物的电泳显示受影响动物中正常HEX A和B缺乏。阻断一级酶免疫测定证实了受影响猫肝脏中存在抗原反应性HEX，其量相对于对照猫中的正常HEX浓度略微升高。在白细胞中，专性杂合子具有中等水平的总HEX活性，由于HEXA，活性百分比略有增加。实际上，使用该测定，除了4个专性杂合子外，11个表型正常的动物中有4个似乎是携带者。受影响的大脑和肝脏与对照组相比，大脑和肝脏含有大量过量的结合N-乙酰神经氨酸的Folch上相固体;薄层色谱法显示GM 2-神经节苷脂显着增加。总之，我们已经描述了一种新的GM 2-神经节苷脂沉积症猫科动物模型的谱系、病理学和生物化学特征，该模型与其他已知的猫科动物模型相似但不同。图片
We have detected a disorder in Korat cats (initially imported from Thailand) that is analogous to human Sandhoff's disease. Pedigree analysis indicates that this disease in an autosomal recessive disorder in the American Korat. Postmortem studies on one affected cat showed hepatomegaly that was not reported in the only other known feline model of GM2-gangliosidosis type II. Histologic and ultra-structural evaluation revealed typical storage vacuoles. There was a marked deficiency in the activity of hexosaminidase (HEX) A and B in affected brain and liver as compared to controls. Electrophoresis of a liver extract revealed a deficiency of normal HEX A and B in the affected animals. The blocking primary enzyme immunoassay verified the presence of antigenically reactive HEX present in affected cat livers in quantities slightly elevated with respect to the normal HEX concentration in control cats. In leukocytes, obligate heterozygotes had intermediate levels of total HEX activity with a slight increase in the percent activity due to HEX A. Indeed, 4 of 11 phenotypically normal animals in addition to four obligate heterozygotes appear to be carriers using this assay. Affected brain and liver compared with control brain and liver contained a great excess of bound N-acetylneuraminic acid in the Folch upper-phase solids; thin-layer chromatography showed a marked increase in GM2-ganglioside. In summary, we have characterized the pedigree, pathology, and biochemistry of a new feline model of GM2-gangliosidosis which is similar to but different from the only other known feline model.Images
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[33] 动物细胞及其膜中鞘糖脂的分离和表征☆
DOI：
--
发表时间：
1974
期刊：
影响因子：
--
作者：
S. Hakomori;B. Siddiqui
通讯作者：
B. Siddiqui
人溶酶体β-D-N-乙酰氨基己糖苷酶和芳基硫酸酯酶同工酶的研究
DOI：
--
发表时间：
1975
期刊：
影响因子：
--
作者：
M. Rattazzi;P. Carmody;R. G. Davidson
通讯作者：
R. G. Davidson
人脑神经节苷脂的薄层色谱研究。
DOI：
--
发表时间：
1966
期刊：
Biochimica et Biophysica Acta
影响因子：
--
作者：
R. J. Penick;M. Meisler;R. McCluer
通讯作者：
R. McCluer
从动物细胞及其膜中分离和表征鞘糖脂。
影响因子：
--
作者：
S. Hakomori;B. Siddiqui
通讯作者：
B. Siddiqui
影响因子：
56.9
作者：
CORK, LC;MUNNELL, JF;RATTAZZI, MC
通讯作者：
RATTAZZI, MC