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Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.
Heimdörfer D, Vorleuter A, Eschlböck A, Spathopoulou A, Suarez-Cubero M, Farhan H, Reiterer V, Spanjaard M, Schaaf CP, Huber LA, Kremser L, Sarg B, Edenhofer F, Geley S, de Araujo MEG, Huettenhofer A. Heimdörfer D, et al. Among authors: edenhofer f. Am J Hum Genet. 2024 Jul 11;111(7):1383-1404. doi: 10.1016/j.ajhg.2024.05.023. Epub 2024 Jun 21. Am J Hum Genet. 2024. PMID: 38908375 Free PMC article.
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.
Höpperger S, Spathopoulou A, Mayer-Suess L, Suarez-Cubero M, Sillaber K, Spreiz A, Kiechl S, Edenhofer F, Fellner L. Höpperger S, et al. Among authors: edenhofer f. Stem Cell Res. 2024 Mar;75:103321. doi: 10.1016/j.scr.2024.103321. Epub 2024 Jan 26. Stem Cell Res. 2024. PMID: 38301384 Free article.
Increased cholesterol synthesis drives neurotoxicity in patient stem cell-derived model of multiple sclerosis.
Ionescu RB, Nicaise AM, Reisz JA, Williams EC, Prasad P, Willis CM, Simões-Abade MBC, Sbarro L, Dzieciatkowska M, Stephenson D, Suarez Cubero M, Rizzi S, Pirvan L, Peruzzotti-Jametti L, Fossati V, Edenhofer F, Leonardi T, Frezza C, Mohorianu I, D'Alessandro A, Pluchino S. Ionescu RB, et al. Among authors: edenhofer f. Cell Stem Cell. 2024 Nov 7;31(11):1574-1590.e11. doi: 10.1016/j.stem.2024.09.014. Epub 2024 Oct 21. Cell Stem Cell. 2024. PMID: 39437792 Free article.
Small fibre neuropathy in Fabry disease: a human-derived neuronal in vitro disease model and pilot data.
Klein T, Grüner J, Breyer M, Schlegel J, Schottmann NM, Hofmann L, Gauss K, Mease R, Erbacher C, Finke L, Klein A, Klug K, Karl-Schöller F, Vignolo B, Reinhard S, Schneider T, Günther K, Fink J, Dudek J, Maack C, Klopocki E, Seibel J, Edenhofer F, Wischmeyer E, Sauer M, Üçeyler N. Klein T, et al. Among authors: edenhofer f. Brain Commun. 2024 Apr 3;6(2):fcae095. doi: 10.1093/braincomms/fcae095. eCollection 2024. Brain Commun. 2024. PMID: 38638148 Free PMC article.
Modeling early phenotypes of Parkinson's disease by age-induced midbrain-striatum assembloids.
Barmpa K, Saraiva C, Lopez-Pigozzi D, Gomez-Giro G, Gabassi E, Spitz S, Brandauer K, Rodriguez Gatica JE, Antony P, Robertson G, Sabahi-Kaviani R, Bellapianta A, Papastefanaki F, Luttge R, Kubitscheck U, Salti A, Ertl P, Bortolozzi M, Matsas R, Edenhofer F, Schwamborn JC. Barmpa K, et al. Among authors: edenhofer f. Commun Biol. 2024 Nov 23;7(1):1561. doi: 10.1038/s42003-024-07273-4. Commun Biol. 2024. PMID: 39580573 Free PMC article.
Integrative metabolomics-genomics analysis identifies key networks in a stem cell-based model of schizophrenia.
Spathopoulou A, Sauerwein GA, Marteau V, Podlesnic M, Lindlbauer T, Kipura T, Hotze M, Gabassi E, Kruszewski K, Koskuvi M, Réthelyi JM, Apáti Á, Conti L, Ku M, Koal T, Müller U, Talmazan RA, Ojansuu I, Vaurio O, Lähteenvuo M, Lehtonen Š, Mertens J, Kwiatkowski M, Günther K, Tiihonen J, Koistinaho J, Trajanoski Z, Edenhofer F. Spathopoulou A, et al. Among authors: edenhofer f. Mol Psychiatry. 2024 Oct;29(10):3128-3140. doi: 10.1038/s41380-024-02568-8. Epub 2024 Apr 29. Mol Psychiatry. 2024. PMID: 38684795 Free PMC article.
Single-cell Profiling of Reprogrammed Human Neural Stem Cells Unveils High Similarity to Neural Progenitors in the Developing Central Nervous System.
Spathopoulou A, Podlesnic M, De Gaetano L, Kirsch EM, Tisch M, Finotello F, Aigner L, Günther K, Edenhofer F. Spathopoulou A, et al. Among authors: edenhofer f. Stem Cell Rev Rep. 2024 Jul;20(5):1325-1339. doi: 10.1007/s12015-024-10698-3. Epub 2024 Mar 22. Stem Cell Rev Rep. 2024. PMID: 38519702 Free PMC article.
100 results