This is due to accumulation of G M2 ganglioside and related glycolipids. Sango et al. fully described the pathological features of retinas in a murine model of G M2 gangliosidosis (Sandhoff disease). The light and electron microscopy revealed ganglioside storage in the retinal neurons – especially...
Characterization of Inducible Models of Tay-Sachs and Related Disease Author Summary Sandhoff and Tay-Sachs disease are devastating neurological diseases associated with developmental regression, blindness, seizures, and deat... TJ Sargeant,DJ Drage,S Wang,... - 《Plos Genetics》 被引量: 21发表: ...
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GM2 gangliosidosis also has three varieties: Tay-Sachs disease, Sandhoff disease, and AB variant, all of which are fatal except in very rare late-onset cases. All forms of GM2 gangliosidosis are characterized by rapid degeneration of the central nervous system, consisting of the brain and spina...
doi:10.1016/j.annonc.2021.01.029C. ParetR. SandhoffK. El MalkiK. FrauenknechtJ. FaberAnnals of Oncology
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