Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 3 of 3 for “"polyglutamine disease"”.
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Genetic and biochemical analysis of the Drosophila melanogaster homolog of the human SCA2 gene
The polyglutamine repeat diseases are a group of dominantly inherited neurodegenerative disorders characterized by progressive degeneration of specific neuronal populations and a shared mutational mechanism involving expansion of a glutamine-encoding repeat in the corresponding genes. Work on …
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Modelling neurodegenerative diseases in human iPSC-derived neurons
… is a pathology shared by a varied class of diseases, and many of the mutations that are known to cause such diseases have been linked to protein aggregation and autophagy dysfunction. Improvements to gene editing and neuronal differentiation strategies have enabled the derivation of in vitro …
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Molecular Genetic Analysis of Spinocerebellar Ataxia Type 7 and a Further Study on the RNA Interference Analysis
… repeat length inversely correlated to the age of disease onset. However intermediate size alleles (having 28-35 CAG repeats) can be converted into mutational expanded alleles in offspring. Ataxin-7 exists in many CNS and non-CNS tissues but pathological symptoms are confined to a few types of …