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Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology.
Pandya NJ, Wang C, Costa V, Lopatta P, Meier S, Zampeta FI, Punt AM, Mientjes E, Grossen P, Distler T, Tzouros M, Martí Y, Banfai B, Patsch C, Rasmussen S, Hoener M, Berrera M, Kremer T, Dunkley T, Ebeling M, Distel B, Elgersma Y, Jagasia R. Pandya NJ, et al. Among authors: ebeling m. Cell Rep Med. 2021 Aug 17;2(8):100360. doi: 10.1016/j.xcrm.2021.100360. eCollection 2021 Aug 17. Cell Rep Med. 2021. PMID: 34467244 Free PMC article.
mTORC1 Inhibition Corrects Neurodevelopmental and Synaptic Alterations in a Human Stem Cell Model of Tuberous Sclerosis.
Costa V, Aigner S, Vukcevic M, Sauter E, Behr K, Ebeling M, Dunkley T, Friedlein A, Zoffmann S, Meyer CA, Knoflach F, Lugert S, Patsch C, Fjeldskaar F, Chicha-Gaudimier L, Kiialainen A, Piraino P, Bedoucha M, Graf M, Jessberger S, Ghosh A, Bischofberger J, Jagasia R. Costa V, et al. Among authors: ebeling m. Cell Rep. 2016 Apr 5;15(1):86-95. doi: 10.1016/j.celrep.2016.02.090. Epub 2016 Mar 24. Cell Rep. 2016. PMID: 27052171 Free article.
265 results