Skip to content

Carla Santos, M.Sc.

DPhil Student

Glycosphingolipid dysregulation and lysosomal dysfunction in motor neurone disease

The early-onset rare neurodegenerative lysosomal storage disorders (LSDs) have been studied as discrete metabolic diseases in their own right. More recently some unanticipated links with common late-onset neurodegenerative diseases, like motor neurone disease (MND) and Parkinson’s disease, have emerged. Recent reports show lipid deregulation, including changes in glycosphingolipid (GSL) levels, in these more common neurodegenerative disorders. The relationship between basic biochemical mechanisms linking lysosomal dysfunction and altered lysosomal enzyme activity in MND remains poorly understood. In this project, I am investigating the basic biological processes causing GSL changes and lysosomal dysfunction in MND.

Key Points:

  • Characterisation of glycosphingolipid deregulations and lysosomal dysfunction in MND
  • Identification of novel lipid-related biomarkers in MND
  • Investigation of the underlying mechanisms of lipid-dysregulation and its place in the pathogenic cascades in MND
  • Evaluation of the effects of lipid-targeted therapies and combination treatments on MND


This work is supported by MND Association.

Back To Top The owner of this website has made a commitment to accessibility and inclusion, please report any problems that you encounter using the contact form on this website. This site uses the WP ADA Compliance Check plugin to enhance accessibility.