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Page 1
Ankyrins: Roles in synaptic biology and pathology.
Smith KR, Penzes P. Smith KR, et al. Mol Cell Neurosci. 2018 Sep;91:131-139. doi: 10.1016/j.mcn.2018.04.010. Epub 2018 May 3. Mol Cell Neurosci. 2018. PMID: 29730177 Free PMC article. Review.
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome.
Unda BK, Chalil L, Yoon S, Kilpatrick S, Irwin C, Xing S, Murtaza N, Cheng A, Brown C, Afonso A, McCready E, Ronen GM, Howe J, Caye-Eude A, Verloes A, Doble BW, Faivre L, Vitobello A, Scherer SW, Lu Y, Penzes P, Singh KK. Unda BK, et al. Mol Psychiatry. 2023 Apr;28(4):1747-1769. doi: 10.1038/s41380-022-01937-5. Epub 2023 Jan 6. Mol Psychiatry. 2023. PMID: 36604605 Free PMC article.
Shed CNTNAP2 ectodomain is detectable in CSF and regulates Ca2+ homeostasis and network synchrony via PMCA2/ATP2B2.
Martín-de-Saavedra MD, Dos Santos M, Culotta L, Varea O, Spielman BP, Parnell E, Forrest MP, Gao R, Yoon S, McCoig E, Jalloul HA, Myczek K, Khalatyan N, Hall EA, Turk LS, Sanz-Clemente A, Comoletti D, Lichtenthaler SF, Burgdorf JS, Barbolina MV, Savas JN, Penzes P. Martín-de-Saavedra MD, et al. Neuron. 2022 Feb 16;110(4):627-643.e9. doi: 10.1016/j.neuron.2021.11.025. Epub 2021 Dec 17. Neuron. 2022. PMID: 34921780 Free PMC article.
Missense variant contribution to USP9X-female syndrome.
Jolly LA, Parnell E, Gardner AE, Corbett MA, Pérez-Jurado LA, Shaw M, Lesca G, Keegan C, Schneider MC, Griffin E, Maier F, Kiss C, Guerin A, Crosby K, Rosenbaum K, Tanpaiboon P, Whalen S, Keren B, McCarrier J, Basel D, Sadedin S, White SM, Delatycki MB, Kleefstra T, Küry S, Brusco A, Sukarova-Angelovska E, Trajkova S, Yoon S, Wood SA, Piper M, Penzes P, Gecz J. Jolly LA, et al. NPJ Genom Med. 2020 Dec 9;5(1):53. doi: 10.1038/s41525-020-00162-9. NPJ Genom Med. 2020. PMID: 33298948 Free PMC article.
23 results