- Cardiovascular Effects of Exercise
- Glycosylation and Glycoproteins Research
- Sports injuries and prevention
- Skin and Cellular Biology Research
- Autoimmune Bullous Skin Diseases
- Plant Reproductive Biology
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Genetics and Physical Performance
- Cardiac electrophysiology and arrhythmias
- Platelet Disorders and Treatments
- Cardiomyopathy and Myosin Studies
University of Basel
2021-2024
Zimmer (Switzerland)
2023
Arrhythmogenic cardiomyopathy (ACM) is characterized by progressive loss of cardiomyocytes with fibrofatty tissue replacement, systolic dysfunction, and life-threatening arrhythmias. A substantial proportion ACM caused mutations in genes the desmosomal cell-cell adhesion complex, but underlying mechanisms are not well understood. In current study, we investigated relevance defective for development progression.We mutated binding site DSG2 (desmoglein-2), a crucial molecule cardiomyocytes....
Glycosylation is essential to facilitate cell–cell adhesion and differentiation. We determined the role of dolichol phosphate mannosyltransferase (DPM) complex, a central regulator for glycosylation, desmosomal adhesive function epidermal Deletion key molecule DPM DPM1, in human keratinocytes resulted weakened adhesion, impaired localization components desmoplakin desmoglein-2, led cytoskeletal organization defects keratinocytes. In 3D organotypic epidermis model, loss DPM1 caused...
Abstract Cell-cell junctions, and specifically desmosomes, are crucial for robust intercellular adhesion. Desmosomal function is compromised in the autoimmune blistering skin disease pemphigus vulgaris. We combine whole-genome knockout screening a promotor screen of desmosomal gene desmoglein 3 human keratinocytes to identify novel regulators Kruppel-like-factor 5 (KLF5) directly binds regulatory region promotes Reduced levels KLF5 patient tissue indicate role Autoantibody fractions from...
Abstract Impairment of desmosomal cell-cell adhesion leads to several life-threatening diseases such as the autoimmune skin blistering disorder pemphigus vulgaris (PV). Disease management strategies that stabilize intercellular adhesion, in addition existing immunosuppression therapies, may result improved clinical outcomes. Previous findings showed serine protease inhibitor SERPINB5 promotes by binding and regulating localization adapter molecule desmoplakin (DSP) at plasma membrane. We...
ABSTRACT Glycosylation is essential to facilitate cell-cell adhesion and differentiation. We determined the role of dolichol phosphate mannosyltransferase (DPM) complex, a central regulator for glycosylation, desmosomal adhesive function epidermal Deletion key molecule DPM DPM1, in human keratinocytes resulted weakened adhesion, impaired localization components desmoplakin desmoglein-2, led cytoskeletal organization defects keratinocytes. In 3D organotypic epidermis model, loss DPM1 caused...
Arrhythmogenic Cardiomyopathy (ACM) is characterized by progressive loss of cardiomyocytes with fibrosis, systolic dysfunction and life-threatening arrhythmias. Mutations in genes the desmosomal adhesion complex such as desmoglein-2 (Dsg2) are major cause, but underlying mechanisms leading to disease not well understood. Accordingly, only symptomatic treatment available. Here, we establish an inducible Dsg2-W2A knock-in mouse model temporal control onset new approach analyse early processes...
Abstract Background Arrhythmogenic Cardiomyopathy (ACM) is characterized by progressive loss of cardiomyocytes with fibrofatty replacement, systolic dysfunction and life-threatening arrhythmias. A substantial proportion ACM caused mutations in genes the desmosomal cell-cell adhesion complex, but underlying mechanisms are not well understood. So far, treatment options only symptomatic. Here, we investigate relevance defective for development progression. Methods We mutated binding site...