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Lilli Winter
Dr. rer.nat. Lilli Winter

Center for Anatomy and Cell Biology (Division of Cell and Developmental Biology)
Position: Research Associate (Postdoc)

ORCID: 0000-0002-6368-1160
T +43 1 40160 37502

Further Information


Cell Biology; Cell Culture Techniques; Cytoskeleton; Desmin; Dystrophin; Microscopy; Muscles; Muscular Dystrophies; Myoblasts; Neuromuscular Diseases; Plectin

Research group(s)

Research interests

Muscular dystrophies (MDs) are progressive and devastating diseases of the human skeletal muscle that often lead to premature death. Although MDs share common features, they are associated with marked clinical variability and diagnosis is not always easy. Within the last years, great efforts have been undertaken to identify MD-causing gene defects, describe MD subtypes, and contribute to the understanding of clinical, genetical and pathophysiological aspects of these diseases. However, we are still far from understanding the molecular mechanisms leading from an individual gene defect to a mutually shared myopathological disease manifestation. Our knowledge of proteins and mechanisms involved is limited, but critical for the understanding of patients’ needs and the development of treatment concepts. Our aim is to provide novel insights into the sequential steps that lead to cellular dysfunctions in various types of MDs and to clarify the downstream molecular pathways and fundamental mechanisms that lead from myofiber alterations and resulting cellular stress to weakness and damage. Moreover, specific targeting of mutation-triggered aberrant cellular pathways has a high potential to provide compensation for the detrimental effects of mutations in MD-associated proteins, laying the basis for future therapeutic approaches.

Techniques, methods & infrastructure

Focusing on the analysis of pathological molecular pathways (and their reversal) in MD-related cell (myoblasts) and animal (mouse) models, we are using a multi-disiplinary approach by combining cell biological, molecular, biochemical, and biophysical methods.


  • Plectin function in normal and diseased hearts (2022)
    Source of Funding: FWF (Austrian Science Fund), International Project
    Principal Investigator
  • Molecular mechanisms of plectin-related muscular dystrophy (2018)
    Source of Funding: FWF (Austrian Science Fund), Stand-Alone Project
    Principal Investigator

Selected publications

  1. Zrelski, M.M., Kustermann, M. & Winter, L., 2021. Muscle-Related Plectinopathies. Cells, 10(9), p.2480. Available at:
  2. Valencia, R.G. et al., 2020. Plectin dysfunction in neurons leads to tau accumulation on microtubules affecting neuritogenesis, organelle trafficking, pain sensitivity and memory. Neuropathology and Applied Neurobiology, 47(1), pp.73–95. Available at:
  3. Winter, L. et al., 2018. Imbalances in protein homeostasis caused by mutant desmin. Neuropathology and Applied Neurobiology, 45(5), pp.476–494. Available at:
  4. Winter, L. et al., 2016. Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue. Acta Neuropathologica, 132(3), pp.453–473. Available at:
  5. Winter, L. et al., 2014. Chemical chaperone ameliorates pathological protein aggregation in plectin-deficient muscle. Journal of Clinical Investigation, 124(3), pp.1144–1157. Available at: