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Dr Wendy Mustill
Appointments:Research Associate, Inst Ophthalmology - Genetics, Institute of Ophthalmology
Motor neuron disease is a progressive, late onset, fatal disease, caused by degeneration of motor neurons and leading to weakness and wasting of muscles. Mutations in the Cu/Zn superoxide dismutase 1 (SOD1) gene are the most common form of inherited ALS, accounting for approximately 20% of all the familial ALS forms and corresponding to 1-2% of all ALS cases. This project is based on the hypothesis that nerve cell-specific molecular chaperones may be able to alleviate problems of protein aggregation and degradation that are associated with Motor Neurone Disease.
- Neuronal chaperones and proteasomal sorting in Motor Neuron Disease
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