Global ETD Search
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Showing 1 to 5 of 5 for “"gangliosidosis"”.
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Molecular characterization of ovine GM1 gangliosidosis
Ovine GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder. Affected lambs are born relatively normal, however at approximately four months of age they begin exhibiting severe neurological symptoms. Pathology progresses rapidly in affected lambs ultimately resulting in death by …
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Preclinical Assessment of Intravenous Gene Therapy for GM2 Gangliosidosis
… in the search for a viable treatment for GM2 Gangliosidosis.
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Role of Membrane Contact Sites in the Neuropathogenesis of GM1-Gangliosidosis
… some of the neurodegenerative aspects of the GM1-gangliosidosis mice, using an RTB-conjugated recombinant β-Gal that has the ability to cross the blood brain barrier. Results. In the first set of results, we used TEM to demonstrate that β-Gal KO neurons have a significantly higher number of ER-PM …
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Phenotypic characterisation of human iPSC neuronal models of GM2 gangliosidoses
… and an alteration of this signalling in GM2 gangliosidosis neurons. To address which disease phenotypes are due to specific accumulation of GM2, I have also generated a GM1 gangliosidosis i3N line and identify many shared changes between these two closely related diseases. Finally, to …