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Thesis

Lysosomal storage and pathologenesis in a novel in vitro cellular model of Sandhoff disease

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 ...

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Peer review status:
Peer Reviewed

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Department:
University of Oxford
This thesis was digitised thanks to the generosity of Dr Leonard Polonsky More from this funder
Publication date:
2009
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford
Local pid:
polonsky:1:2

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