Sara Missaglia
Università Cattolica del Sacro Cuore, Italy
- Orcid: 0000-0001-6551-6698
- Publications: 37
- Citations: 619
- Keywords: Human Genetic, Cell Biology, Gene expression, Neuromuscular disorders, Lipid myopathy diseases, Neutral lipid storage diseases
Short Bio
- I obtained Biological Science degree from University of Milan and then PhD in Biological Science from Bicocca University of Milan. I am currently non-tenured assistant professor, Laboratory of Cellular Biochemistry and Molecular Biology, research Centre CRIBENS, Università Cattolica del Sacro Cuore, Milan. My fields of research are: Neutral Lipid Storage Diseases (NLSDs) - investigation of biochemical and molecular mechanisms underlying these diseases (from 2011); Lymphedema-distichiasis syndrome - development of biochemical and molecular assays to perform functional characterization of FOXC2 mutant proteins (from 2013); Multiple acyl-coenzyme-A dehydrogenase deficiency (MADD) - evaluation of ETFDH gene mutation effect on ETF-QO protein stability and folding, and of impairment of fatty acid oxidation (from 2016); Assessment of the impact of different physical exercise protocols on cytokines production, particularly exerkines, and potential neuro-cognitive benefits (from 2022). I have published several papers in the areas of Biochemistry and Molecular Biology, some of them as first/corresponding authors.