An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)
JTR Clarke, DJ Mahuran, S Sathe, EH Kolodny… - Molecular genetics and …, 2011 - Elsevier
Late-onset GM2 gangliosidosis is an autosomal recessive, neurodegenerative, lysosomal
storage disease, caused by deficiency of ß-hexosaminidase A (Hex A), resulting from
mutations in the HEXA (Tay–Sachs variant) or the HEXB (Sandhoff variant) genes. The
enzyme deficiency in many patients with juvenile or adult onset forms of the disease results
from the production of an unstable protein, which becomes targeted for premature
degradation by the quality control system of the smooth endoplasmic reticulum and is not …
storage disease, caused by deficiency of ß-hexosaminidase A (Hex A), resulting from
mutations in the HEXA (Tay–Sachs variant) or the HEXB (Sandhoff variant) genes. The
enzyme deficiency in many patients with juvenile or adult onset forms of the disease results
from the production of an unstable protein, which becomes targeted for premature
degradation by the quality control system of the smooth endoplasmic reticulum and is not …