Increased cholesterol synthesis drives neurotoxicity in patient stem cell-derived model of multiple sclerosis

Authors: Ionescu, Rosana-Bristena, Nicaise, Alexandra M., Reisz, Julie A., Williams, Eleanor C., Prasad, Pranathi, Willis, Cory M., Simões-Abade, Madalena B.C., Sbarro, Linda, Dzieciatkowska, Monika, Stephenson, Daniel, Suarez Cubero, Marta, Rizzi, Sandra, Pirvan, Liviu, Peruzzotti-Jametti, Luca, Fossati, Valentina, Edenhofer, Frank, Leonardi, Tommaso, Frezza, Christian, Mohorianu, Irina, D’Alessandro, Angelo, Pluchino, Stefano

Source: In Cell Stem Cell 7 November 2024 31(11):1574-1590

Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes

Authors: Heimdörfer, David, Vorleuter, Alexander, Eschlböck, Alexander, Spathopoulou, Angeliki, Suarez-Cubero, Marta, Farhan, Hesso, Reiterer, Veronika, Spanjaard, Melanie, Schaaf, Christian P., Huber, Lukas A., Kremser, Leopold, Sarg, Bettina, Edenhofer, Frank, Geley, Stephan, de Araujo, Mariana E.G., Huettenhofer, Alexander

Source: In The American Journal of Human Genetics 11 July 2024 111(7):1383-1404

Generation of the human induced pluripotent stem cell line (IBKMOLi002-A) from PBMCs of a patient carrying the heterozygous L271H mutation of the voltage-gated calcium channel subunit Cav1.3-encoding CACNA1D gene

Authors: Tisch, Marcel, Carmen De Mingo Alemany, María, Suarez-Cubero, Marta, Fauth, Christine, Defrancesco, Michaela, Zschocke, Johannes, Günther, Katharina, Edenhofer, Frank

Source: Stem cell research. 61

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100188122283.0x000001&indx=1&recIds=ETOCvdc_100188122283.0x000001

Generation of the human induced pluripotent stem cell line (IBKMOLi003-A) from PBMCs of a vascular Ehlers-Danlos syndrome (vEDS) patient carrying the heterozygous nonsense mutation c.430C > T (p.Q105*) in the COL3A1 gene

Authors: Höpperger, Sabrina, Spathopoulou, Angeliki, Mayer-Suess, Lukas, Suarez-Cubero, Marta, Sillaber, Katharina, Spreiz, Ana, Kiechl, Stefan, Edenhofer, Frank, Fellner, Lisa

Source: In Stem Cell Research March 2024 75