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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V; Undiagnosed Diseases Network; Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA… See abstract for full author list ➔ Johnson BV, et al. Among authors: yoon s. Biol Psychiatry. 2020 Jan 15;87(2):100-112. doi: 10.1016/j.biopsych.2019.05.028. Epub 2019 Jun 29. Biol Psychiatry. 2020. PMID: 31443933 Free PMC article.
CNTNAP2 stabilizes interneuron dendritic arbors through CASK.
Gao R, Piguel NH, Melendez-Zaidi AE, Martin-de-Saavedra MD, Yoon S, Forrest MP, Myczek K, Zhang G, Russell TA, Csernansky JG, Surmeier DJ, Penzes P. Gao R, et al. Among authors: yoon s. Mol Psychiatry. 2018 Sep;23(9):1832-1850. doi: 10.1038/s41380-018-0027-3. Epub 2018 Apr 9. Mol Psychiatry. 2018. PMID: 29610457 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. Among authors: yoon s. 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.
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