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The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc.
Ambrozkiewicz MC, Borisova E, Schwark M, Ripamonti S, Schaub T, Smorodchenko A, Weber AI, Rhee HJ, Altas B, Yilmaz R, Mueller S, Piepkorn L, Horan ST, Straussberg R, Zaqout S, Jahn O, Dere E, Rosário M, Boehm-Sturm P, Borck G, Willig KI, Rhee J, Tarabykin V, Kawabe H. Ambrozkiewicz MC, et al. Among authors: horan st. Mol Psychiatry. 2021 Jun;26(6):1980-1995. doi: 10.1038/s41380-020-0714-8. Epub 2020 Apr 6. Mol Psychiatry. 2021. PMID: 32249816
Astrocytes are central in the pathomechanisms of vanishing white matter.
Dooves S, Bugiani M, Postma NL, Polder E, Land N, Horan ST, van Deijk AL, van de Kreeke A, Jacobs G, Vuong C, Klooster J, Kamermans M, Wortel J, Loos M, Wisse LE, Scheper GC, Abbink TE, Heine VM, van der Knaap MS. Dooves S, et al. Among authors: horan st. J Clin Invest. 2016 Apr 1;126(4):1512-24. doi: 10.1172/JCI83908. Epub 2016 Mar 14. J Clin Invest. 2016. PMID: 26974157 Free PMC article.