Talk by Laura Swan and Massimiliano Stagi
Title: "A muscular dystrophy caused by mutation of the ER-localised inositol phosphatase INPP5K" and "Analyzing mitochondrial and lysosomal functions with advanced genetic probes"
Occasion: SFB Seminar
Host: Florian Fröhlich
Start: 22.06.2023 16:15
Location: CellNanOs 38/201
About the speakers: Laura Swan and Massimiliano Stagit conduct research in the Faculty of Biochemistry and Systems Biology at the University of Liverpool, UK.
Abstract of the talks: We present some of our work on the ER-located inositol 5 phosphatase, INPP5K, which is implicated in a congenital muscular dystrophy with cataract. Characterisation of disease-causing mutants of INPP5K show that all known disease causing mutants fail to recruit to a mitochondria-derived organelle which we call HyPERs, which we are now characterising.
We present an advanced probe genetic system for detailed study of mitochondria and lysosomes in living cells. The toolset employs unique coloured markers for precise organelle visualization, along with an Alfa-tag system for non-destructive isolation, significantly preserving organelle integrity. It also incorporates pH-sensitive proteins, enabling crucial pH monitoring within these organelles, offering invaluable insights into ATP synthesis, protein degradation, endocytosis, and autophagy. This comprehensive system provides unparalleled detail in organelle study, enhancing understanding of cellular biology, organelle-related pathologies, and driving innovative therapeutic strategies.