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Page 1
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: spathopoulou a. 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.
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. 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.
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: spathopoulou a. 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.
Impaired neural stress resistance and loss of REST in bipolar disorder.
Meyer K, Ling KH, Yeo PL, Spathopoulou A, Drake D, Choi J, Aron L, Garcia-Corral M, Ko T, Lee EA, Tam JM, Perlis RH, Church GM, Tsai LH, Yankner BA. Meyer K, et al. Among authors: spathopoulou a. Mol Psychiatry. 2024 Jan;29(1):153-164. doi: 10.1038/s41380-023-02313-7. Epub 2023 Nov 8. Mol Psychiatry. 2024. PMID: 37938767