- Abstract:
-
Sandhoff disease is a devastating autosomal recessive GM2 gangliosidosis in which a deficiency of β-hexosaminidase results in lysosomal storage of the enzyme's substrates, including GM2 and GA2 glycolipid as well as glycoprotein-derived oligosaccharides (OS). The effect of individual storage products on the induction of neurodegeneration in the gangliosidoses has not been well defined.
Currently there is no valid in vitro cellular model for studying this disease so the aim ...
Expand abstract - Peer review status:
- Peer Reviewed
- Publication date:
- 2009
- Type of award:
- DPhil
- Level of award:
- Doctoral
- Awarding institution:
- University of Oxford
- Local pid:
- polonsky:1:2
- Copyright holder:
- Boomkamp, Stephanie D.
- Copyright date:
- 2009
- Notes:
- This thesis was digitised thanks to the generosity of Dr Leonard Polonsky
Thesis
Lysosomal storage and pathologenesis in a novel in vitro cellular model of Sandhoff disease
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This thesis was digitised thanks to the generosity of Dr Leonard Polonsky
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