David Rubinsztein

Autophagy and neurodegeneration

The biology of diseases associated with protein misfolding and intracellular aggregation, using Huntington’s disease (HD) as a paradigm

Intracellular protein misfolding/aggregation are features of many late-onset neurodegenerative diseases, called proteinopathies. These include Alzheimer’s disease, Parkinson’s disease, tauopathies, and polyglutamine expansion diseases (like Huntington’s disease (HD) and various spinocerebellar ataxias (SCAs)). Currently, there are no effective strategies that slow/prevent the neurodegeneration resulting from these diseases in humans.

We are currently employing a range of approaches to address this issue, including conventional biochemistry and cell biology, zebrafish genetic knockdowns and genome-wide Drosophila modifier screens. We are trying to identify pathways that may have broad relevance to a range of neurodegenerative diseases (e.g. Sarkar et al. (2011) Mol Cell 43, 19-32).