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MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention.
Weigel B, Tegethoff JF, Grieder SD, Lim B, Nagarajan B, Liu YC, Truberg J, Papageorgiou D, Adrian-Segarra JM, Schmidt LK, Kaspar J, Poisel E, Heinzelmann E, Saraswat M, Christ M, Arnold C, Ibarra IL, Campos J, Krijgsveld J, Monyer H, Zaugg JB, Acuna C, Mall M. Weigel B, et al. Among authors: truberg j. Mol Psychiatry. 2023 May;28(5):2122-2135. doi: 10.1038/s41380-023-01959-7. Epub 2023 Feb 14. Mol Psychiatry. 2023. PMID: 36782060 Free PMC article.
N-terminome analyses underscore the prevalence of SPPL3-mediated intramembrane proteolysis among Golgi-resident enzymes and its role in Golgi enzyme secretion.
Hobohm L, Koudelka T, Bahr FH, Truberg J, Kapell S, Schacht SS, Meisinger D, Mengel M, Jochimsen A, Hofmann A, Heintz L, Tholey A, Voss M. Hobohm L, et al. Among authors: truberg j. Cell Mol Life Sci. 2022 Mar 13;79(3):185. doi: 10.1007/s00018-022-04163-y. Cell Mol Life Sci. 2022. PMID: 35279766 Free PMC article.