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Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.
Avagliano Trezza R, Sonzogni M, Bossuyt SNV, Zampeta FI, Punt AM, van den Berg M, Rotaru DC, Koene LMC, Munshi ST, Stedehouder J, Kros JM, Williams M, Heussler H, de Vrij FMS, Mientjes EJ, van Woerden GM, Kushner SA, Distel B, Elgersma Y. Avagliano Trezza R, et al. Among authors: rotaru dc. Nat Neurosci. 2019 Aug;22(8):1235-1247. doi: 10.1038/s41593-019-0425-0. Epub 2019 Jun 24. Nat Neurosci. 2019. PMID: 31235931
Strain Differences in Presynaptic Function: PROTEOMICS, ULTRASTRUCTURE, AND PHYSIOLOGY OF HIPPOCAMPAL SYNAPSES IN DBA/2J AND C57Bl/6J MICE.
Lenselink AM, Rotaru DC, Li KW, van Nierop P, Rao-Ruiz P, Loos M, van der Schors R, Gouwenberg Y, Wortel J, Mansvelder HD, Smit AB, Spijker S. Lenselink AM, et al. Among authors: rotaru dc. J Biol Chem. 2015 Jun 19;290(25):15635-15645. doi: 10.1074/jbc.M114.628776. Epub 2015 Apr 24. J Biol Chem. 2015. PMID: 25911096 Free PMC article.
Proteomics, ultrastructure, and physiology of hippocampal synapses in a fragile X syndrome mouse model reveal presynaptic phenotype.
Klemmer P, Meredith RM, Holmgren CD, Klychnikov OI, Stahl-Zeng J, Loos M, van der Schors RC, Wortel J, de Wit H, Spijker S, Rotaru DC, Mansvelder HD, Smit AB, Li KW. Klemmer P, et al. Among authors: rotaru dc. J Biol Chem. 2011 Jul 22;286(29):25495-504. doi: 10.1074/jbc.M110.210260. Epub 2011 May 19. J Biol Chem. 2011. PMID: 21596744 Free PMC article.
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