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Dysfunctional Protein Modification Pathways in Neurological Disorders
Health Technologies at Strathclyde United Kingdom flag United Kingdom
Abstract ID:
This project is investigating how defects in protein modification pathways contribute to neurodegenerative disorders such as Huntington\'s disease (HD) and specific lysosomal storage diseases (LSDs).
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Identifying new pathways to treat and cure neurological disorders is a major challenge. We are investigating how defects in protein modification pathways contribute to neurodegenerative disorders such as Huntington’s disease (HD) and specific lysosomal storage diseases (LSDs). We are also investigating how dysfunctional protein modification enzymes cause intellectual disability?.??


S-acylation is a common modification of cellular proteins whereby fatty acids are attached to the amino acid backbone. This modification regulates protein intracellular localisation, stability, and function. Recent work has shown that S-acylation protects the huntingtin protein from aggregation, which is a hallmark feature of HD. Indeed, huntingtin is also an essential regulator of S-acyltransferase enzymes, suggesting that some deficits seen in HD may relate to changes in cellular S-acylation pathways.  

Mutations in S-acylation enzymes have also been shown to cause intellectual disability although the underlying mechanism is currently unknown. Finally, recent work from our group has highlighted a novel role for S-acylation in causing aggregation of mutant proteins in LSDs. Collectively, there is an emerging link between dysfunctional S-acylation and neurological disease.

Our long-term aim is to identify new therapeutic targets and treatments for these debilitating conditions. To do this, we employ multi- and cross-disciplinary research using models ranging from simple cell lines to rodent models and human patients??.

Key Benefits

The research should inform on Huntington’s disease, lysosomal storage diseases and other rare neuroscience disorders??.?

Markets and Applications

We are interested in establishing mutually beneficial collaborative projects with relevant industrial partners. Key areas of interest include Huntington’s disease, lysosomal storage disorders and intellectual disability?.

Type of Business Relationship Sought

Contact is welcomed from organisations interested in developing, licensing or exploiting this technology

Last Updated Oct 2013
Technology Type
Phase of Development EARLY STAGE

Opportunity Contact

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