Article
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.
The Journal of biological chemistry - 23 Mar 2007
Maegawa Gustavo H B, Tropak Michael, Buttner Justin, Stockley Tracy, Kok Fernando, Clarke Joe T R, Mahuran Don J
Abstract excerpt
Late-onset GM2 gangliosidosis is composed of two related, autosomal recessive, neurodegenerative diseases, both resulting from deficiency of lysosomal, heterodimeric beta-hexosaminidase A (Hex A, alphabeta). Pharmacological chaperones (PC) are small molecules that can stabilize the conformation of a mutant protein, allowing it to pass the quality control system of the endoplasmic reticulum. To date all successful...
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