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Investigating the autophagy pathway in a novel C9ORF72 mouse model of motor neuron disease

Motor neuron disease (MND) is a neurodegenerative disease characterised by cytoplasmic accumulation and aggregation of proteins which are implicated in motor neuron death. 

Aims

This project will investigate the autophagy pathway in a novel C9ORF72 mouse model and will employ advanced microscopy, immunohistological and image analysis techniques.

Strategies that improve proteostasis and clear these misfolded proteins in motor neurons are therefore an attractive therapeutic approach for MND.  Our group is interested in autophagy, the main catabolic pathway in neurons that targets and degrades misfolded proteins, aggregates and damaged organelles.  C9ORF72 mutation is the largest genetic cause of MND affecting 40% of familial MND cases and 8-10 % of sporadic ALS.

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