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Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.
Rydzanicz M, Wachowska M, Cook EC, Lisowski P, Kuźniewska B, Szymańska K, Diecke S, Prigione A, Szczałuba K, Szybińska A, Koppolu A, Murcia Pienkowski V, Kosińska J, Wiweger M, Kostrzewa G, Brzozowska M, Domańska-Pakieła D, Jurkiewicz E, Stawiński P, Gromadka A, Zielenkiewicz P, Demkow U, Dziembowska M, Kuźnicki J, Creamer TP, Płoski R. Rydzanicz M, et al. Among authors: kuzniewska b. Eur J Hum Genet. 2019 Jan;27(1):61-69. doi: 10.1038/s41431-018-0254-8. Epub 2018 Sep 25. Eur J Hum Genet. 2019. PMID: 30254215 Free PMC article.
Destabilization of mutated human PUS3 protein causes intellectual disability.
Lin TY, Smigiel R, Kuzniewska B, Chmielewska JJ, Kosińska J, Biela M, Biela A, Kościelniak A, Dobosz D, Laczmanska I, Chramiec-Głąbik A, Jeżowski J, Nowak J, Gos M, Rzonca-Niewczas S, Dziembowska M, Ploski R, Glatt S. Lin TY, et al. Among authors: kuzniewska b. Hum Mutat. 2022 Dec;43(12):2063-2078. doi: 10.1002/humu.24471. Epub 2022 Oct 2. Hum Mutat. 2022. PMID: 36125428 Free PMC article.
Rapid, experience-dependent translation of neurogranin enables memory encoding.
Jones KJ, Templet S, Zemoura K, Kuzniewska B, Pena FX, Hwang H, Lei DJ, Haensgen H, Nguyen S, Saenz C, Lewis M, Dziembowska M, Xu W. Jones KJ, et al. Among authors: kuzniewska b. Proc Natl Acad Sci U S A. 2018 Jun 19;115(25):E5805-E5814. doi: 10.1073/pnas.1716750115. Epub 2018 Jun 7. Proc Natl Acad Sci U S A. 2018. PMID: 29880715 Free PMC article.
Mitochondrial protein biogenesis in the synapse is supported by local translation.
Kuzniewska B, Cysewski D, Wasilewski M, Sakowska P, Milek J, Kulinski TM, Winiarski M, Kozielewicz P, Knapska E, Dadlez M, Chacinska A, Dziembowski A, Dziembowska M. Kuzniewska B, et al. EMBO Rep. 2020 Aug 5;21(8):e48882. doi: 10.15252/embr.201948882. Epub 2020 Jun 18. EMBO Rep. 2020. PMID: 32558077 Free PMC article.
19 results