Mylene Huebecker, M.Sc.

DPhil Student

Lysosomal dysfunction and glycosphingolipid dysregulation in rare and common neurodegenerative diseases

Historically, the early-onset rare neurodegenerative lysosomal storage disorders (LSDs) have been studied as discrete metabolic diseases in their own right. However, in recent years some unanticipated and exciting links with common late-onset neurodegenerative diseases, like Parkinson’s disease (PD) and amyotrophic lateral sclerosis (ALS), have emerged. Recent reports show lipid dysregulation, e.g. changes in glycosphingolipid (GSL) levels, in these more common neurodegenerative disorders. However, the relationship between basic biochemical mechanisms like lysosomal dysfunction and lipid dysregulation in ALS and PD remains poorly understood. In this project, I am investigating the basic biological processes causing GSL changes and lysosomal dysfunction in these diseases.

Key Points:

  • Lysosomal dysfunction in Parkinson’s disease and ALS
  • Glycosphingolipid dysregulation in Parkinson’s disease and ALS
  • Evaluation of the effects of lipid-targeted therapies in rare and more common diseases
  • Identification of novel lipid-related biomarkers before onset of disease


This work is supported by Parkinson’s disease UK and Spedding Research Solutions SARL, France.