Tay-Sachs or Sandhoff disease result from mutations in either the evolutionarily related HEXA or HEXB genes encoding respectively, the α- or β-subunits of β-hexosaminidase A (HexA). Of the three Hex isozymes, only HexA can interact with its cofactor, the GM2 activator protein (GM2AP), and hydrolyze GM2 ganglioside. A major impediment to establishing gene or enzyme replacement therapy based on H...

Tay-Sachs and Sandhoff diseases are lysosomal storage disorders characterized by the absence of beta-hexosaminidase activity and the accumulation of GM2 ganglioside in neurons. In each disorder, a virtually identical course of neurodegeneration begins in infancy and leads to demise generally by 4-6 years of age. Through serial analysis of gene expression (SAGE), we determined gene expression pr...

TAKEDA, K., NAKAI, H., HAGIWARA, H., TADA, K., SHOWS, T.S., BYERS, MG. and MYEROWITZ, R. Fine Assignment of R-Hexosaminidase A a-Subunit on 15g23-q24 by High Resolution In Situ Hybridization. Tohoku J. Exp. Med., 1990, 160 (3), 203-211 Tay-Sacks disease results from mutation in the gene encoding /3-hexosaminidase A a-Subunit. Although some reports have suggested the locus on 15q, we tried to de...

Familial lipodystrophic conditions, such as Gaucher's, Niemann-Pick, and Tay-Sachs disease, are characterized by the intracellular accumulation of abnormally large quantities of sphingolipids. In Gaucher's disease, the offending lipids are cerebrosides, while Niemann-Pick and Tay-Sachs diseases are characterized by the accumulation of sphingomyelin and gangliosides, respectively. In Gaucher's a...

Background: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in‌ an Iranian population. Methods: In this study, we examined 31 patients for TSD-causing m...

Mở đầu: Các tổn thương thần kinh sau phẫu thuật nội soi khớp cổ tay thường liên quan tới quá trình thiết lập cổng vào phía mu tay. Nghiên cứu này nhằm đánh giá nguy cơ các cấu trúc xung quanh ở thông qua khoảng cách giữa thành phần đó. Đối tượng và phương pháp nghiên cứu: mô tả hàng loạt ca được thực hiện tại bộ môn Giải phẫu, Đại học Y dược TPHCM từ tháng 5/2021 6/2021 với cỡ mẫu là 30 15 xác ...

We describe a method for continuous kinetic measurement of hexosaminidase activity, and have applied it to detection of heterozygotes for Tay-Sachs gene. In contrast to existing single-point methods, a ph of 4.5, which is optimal for hexosaminidase activity on the substrate (4-methylumbelliferyl-N-acetyl-beta-d-glucosaminide) is maintained while the increase in fluorescence produced by 4-methyl...