Lilli Winter

Abstract:

We are currently investigating molecular mechanisms of muscular dystrophies (MDs), a heterogeneous group of disorders characterized by progressive degeneration of skeletal muscle. Most MDs show a progressive clinical course, lead to severe physical disability, and often to premature death. The knowledge of the precise molecular mechanisms that translate MD-causing gene mutations into the myopathic phenotype is still limited, but critical for the understanding of patients’ needs and the development of treatments.

Techniques:

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

Selected Publications:

1. Valencia R, Mihailovska E, Winter L, Bauer K, Fischer I, Walko G, Jorgacevski J, Potokar M, Zorec R, Wiche G (2020) Plectin dysfunction in neurons leads to tau accumulation on microtubules affecting neuritogenesis, organelle trafficking, pain sensitivity and memory Neuropathol Appl Neurobiol, 47 (1): 73-95
2. Winter L, Unger A, Berwanger C, Spörrer M, Türk M, Chevessier F, Strucksberg K, Schlötzer-Schrehardt U, Wittig I, Goldmann W, Marcus K, Linke W, Clemen C, Schröder R (2018) Imbalances in protein homeostasis caused by mutant desmin Neuropathol Appl Neurobiol, 45 (5): 476-494
3. Winter L, Türk M, Harter P, Mittelbronn M, Kornblum C, Norwood F, Jungbluth H, Thiel C, Schlötzer-Schrehardt U, Schröder R (2016) Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy Acta Neuropathologica Communications, 4 (1)
4. Winter L, Wittig I, Peeva V, Eggers B, Heidler J, Chevessier F, Kley R, Barkovits K, Strecker V, Berwanger C, Herrmann H, Marcus K, Kornblum C, Kunz W, Schröder R, Clemen C (2016) Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue Acta Neuropathol, 132 (3): 453-473
5. Winter L, Staszewska I, Mihailovska E, Fischer I, Goldmann W, Schröder R, Wiche G (2014) Chemical chaperone ameliorates pathological protein aggregation in plectin-deficient muscle J Clin Invest, 124 (3): 1144-1157