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Articles 1 - 2 of 2
Full-Text Articles in Life Sciences
Restoration Of Β-Hexosaminidase A Deficiency Through The Use Of Protein Chaperones, Anthony J. Fund
Restoration Of Β-Hexosaminidase A Deficiency Through The Use Of Protein Chaperones, Anthony J. Fund
ELAIA
Tay-Sachs disease (TSD, also known as GM2-gangliosidosis) is an incurable autosomal-recessive neurodegenerative lysosomal storage disease caused by a mutation in the HEX A gene that codes for the lysosomal enzyme β-hexosaminidase A (Hex A). For patients with TSD, GM2-gangliosides cannot be properly broken down, and, as a result, accumulate in their neurons, causing severe neurological complications. Although all past treatment options have been ineffective, this study set out to reduce the number of GM2-gangliosides in cells by increasing Hex A activity using novel pharmacological chaperone therapy.
Four factors, DMSO, glutamic acid, Pyrimethamine, and a decrease in temperature, were assessed for …
Elaia 2020/2021, Stephen Case