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Mylene Huebecker

M.Sc.


DPhil Student

My work focuses on 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 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 now investigating the basic biological processes causing GSL changes and lysosomal dysfunction in these diseases.

Key Points:

  • Lysosomal dysfunction in PD and ALS
  • Glycosphingolipid dysregulation in PD 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

Funding:

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

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Recent Publications

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