Elimination of the B4Galnt1 gene normalizes lifespan and prevents pathology in Tay-Sachs disease micedoi:10.1016/j.ymgme.2022.107315Volkan SeyrantepeElsevier Inc.Molecular Genetics and Metabolism
But when TNFa was subsequently removed, there was a significant improvement in the lifespan of themiceandneurological function. "We also found that neurons didn't die as early as they do with the disease, so we delayed the progression as well," says Igdoura. "We have identified a molecule...
Tay-Sachs disease is a severe lysosomal storage disorder caused by mutations in Hexa, the gene that encodes for the 卤 subunit of lysosomal -hexosaminidase A (HEXA), which converts GM2 to GM3 ganglioside. Unexpectedly, Hexa -/- mice have a normal lifespan and show no obvious neurological ...
Barlow-Stewart K, Burnett L, Proos A et al (2003) A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students. J Med Genet 40:e45Barlow-Stewart K, Brunett L, Proos A, Howell V, Huq F, Lazarus R, Aizenberg H (2003) A genetic...