Skip to main content

Detail

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 37506
lilli.winter@meduniwien.ac.at

Further Information

Keywords

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

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.

Grants

  • Molecular mechanisms of plectin-related muscular dystrophy (2018)
    Source of Funding: FWF (Austrian Science Fund), Stand-Alone Project
    Principal Investigator

Selected publications

  1. 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: http://dx.doi.org/10.1007/s00401-016-1592-7.
  2. Winter, L. et al., 2016. Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy. Acta Neuropathologica Communications, 4(1). Available at: http://dx.doi.org/10.1186/s40478-016-0314-7.
  3. Winter, L. et al., 2015. Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle. Human Molecular Genetics, 24(16), pp.4530-4544. Available at: http://dx.doi.org/10.1093/hmg/ddv184.
  4. 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: http://dx.doi.org/10.1172/JCI71919.
  5. Winter, L. & Wiche, G., 2012. The many faces of plectin and plectinopathies: pathology and mechanisms. Acta Neuropathologica, 125(1), pp.77-93. Available at: http://dx.doi.org/10.1007/s00401-012-1026-0.