LYSOCIL CEDOC-NMS I FCM special seminar with Tiago Dantas PhD

March 16, 2022 IN PERSON and ZOOM


Special LYSOCIL CEDOC-NMS I FCM seminar with Tiago J. Dantas, PhD, Institute for Research and Innovation in Health (i3S), University of Porto, Portugal, will take place on 16th of March, Wednesday at 12pm (Lisbon time) (-1h rest of Europe) IN PERSON  hosted by Susana Lopes, PhD. It will be also available by zoom.


This seminar will be dedicated to “Dissecting the mechanisms regulating the essential roles of the Dynein-2 motor in cilia” and it will be IN PERSON at CEDOC facilities, Auditorium MMM. 

Please request the link to: manage.lysocil@nms.unl.pt


Title: “Dissecting the mechanisms regulating the essential roles of the Dynein-2 motor in cilia”


Abstract: Cilia are microtubule-based organelles protruding from the surface of cells. Many different types of cilia have evolved to carry out a wide range of critical functions throughout the development and life of animals. Regardless of their type, the assembly and function of all cilia rely on retrograde intraflagellar transport (IFT) driven by Dynein-2, a minus-end-directed microtubule motor complex. Mutations in the genes encoding Dynein-2 subunits have been mainly associated with bone developmental disorders with high rates of perinatal and infant mortality. However, very little is known regarding the regulation of Dynein-2 motor complex activity during the essential functions of cilia. Taking advantage of the Caenorhabditis elegans model, in which cilium functions are dispensable for survival, we identified a role for the intermediate chain WDR-60 in the recruitment and loading of the Dynein-2 core subunits into cilia. We also found that the reduced availability of Dynein-2 at the tips of wdr-60 mutant cilia, lowered the number of Dynein-2 motors driving retrograde IFT particles. This, in turn, led to decreased retrograde IFT kinetics, IFT particle accumulation inside cilia, and partially impaired cilia-mediated signaling. Remarkably, the targeting of specific components of the ciliary gate (commonly known as transition zone), increased the kinetics of retrograde IFT and reduced the accumulation of IFT particles in wdr-60 mutant cilia, showing that the transition zone gate offers resistance to retrograde IFT. Altogether, our results show that WDR-60 mediates Dynein-2 loading into cilia, and reveal that Dynein-2 motors need to reach a minimal force-generating threshold to power the passage of retrograde IFT through the ciliary gate to exit cilia. 



LYSOCIL CEDOC-NMS I FCM special seminar with Professor Robert MacLaren

March 7, 2022 IN PERSON and ZOOM


Special LYSOCIL CEDOC-NMS|FCM seminar with Professor Robert MacLaren, Professor of Ophthalmology at the University of Oxford, UK will take place on 7th of March, Monday at 2pm (Lisbon time) (-1h rest of Europe) IN PERSON. It will be also available by zoom.


This seminar will be dedicated to “Gene therapy for retinal diseases” and it will be IN PERSON at CEDOC facilities, Auditorium MMM.

Please request the link to: manage.lysocil@nms.unl.pt


Title: “Gene therapy for retinal diseases”


Abstract: Retinal gene therapy delivered by adeno-associated viral vectors has great promise in the treatment of inherited retinal degenerations. Here I will give an overview of our work in developing a gene therapy treatment for choroideremia, X-linked retinitis pigmentosa and age-related macular degeneration, which are currently in clinical trials. I will also discuss CRISPR based gene therapy treatments and mirtron-based gene silencing, which have potential to treat large gene disorders and dominantly inherited diseases in future.



Rare Disease