Publications by authors named "Geoff McGrane"
Article Synopsis
- Infantile neuroaxonal dystrophy (INAD) is a deadly genetic disorder affecting children, linked to recessive variants and resulting in neurodegeneration due to ceramide buildup and mitochondrial issues.
- Research shows that INAD-affected neurons display altered retromer function, disrupted ceramide metabolism, and compromised endolysosomal pathways, which are also observed in related mouse models.
- A study of 20 drugs identified Ambroxol, Desipramine, Azoramide, and Genistein as effective in reducing neurodegenerative symptoms, and a new gene therapy approach shows promise in slowing degeneration and extending lifespan in INAD mice.
