PYRIMETHAMINE AS A POTENTIAL PHARMACOLOGICAL CHAPERONE FOR LATE-ONSET FORMS OF GM2 GANGLIOSIDOSIS

Late-onset GM2-gangliosidosis (GM2) is composed of two related, autosomal recessive, neurodegenerative diseases, both resulting from deficiency of lysosomal, heterodimeric β-hexosaminidase A (Hex A, αβ). Pharmacological chaperones (PC) are small molecules that can stabilize the conformation of a mut...

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Autores principales: Maegawa, Gustavo H. B., Tropak, Michael, Butner, Justin, Stockley, Tracy, Kok, Fernando, Clarke, Joe T. R., Mahuran, Don J.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2007
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1851921/
https://ncbi.nlm.nih.gov/pubmed/17237499
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M609304200
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