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Page 1
Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.
DeSpenza T Jr, Singh A, Allington G, Zhao S, Lee J, Kiziltug E, Prina ML, Desmet N, Dang HQ, Fields J, Nelson-Williams C, Zhang J, Mekbib KY, Dennis E, Mehta NH, Duy PQ, Shimelis H, Walsh LK, Marlier A, Deniz E, Lake EMR, Constable RT, Hoffman EJ, Lifton RP, Gulledge A, Fiering S, Moreno-De-Luca A, Haider S, Alper SL, Jin SC, Kahle KT, Luikart BW. DeSpenza T Jr, et al. Among authors: luikart bw. Proc Natl Acad Sci U S A. 2024 Jul 2;121(27):e2314702121. doi: 10.1073/pnas.2314702121. Epub 2024 Jun 25. Proc Natl Acad Sci U S A. 2024. PMID: 38916997
Synergistic hyperactivation of both mTORC1 and mTORC2 underlies the neural abnormalities of PTEN-deficient human neurons and cortical organoids.
Dhaliwal NK, Weng OY, Dong X, Bhattacharya A, Ahmed M, Nishimura H, Choi WWY, Aggarwal A, Luikart BW, Shu Q, Li X, Wilson MD, Moffat J, Wang LY, Muffat J, Li Y. Dhaliwal NK, et al. Among authors: luikart bw. Cell Rep. 2024 May 28;43(5):114173. doi: 10.1016/j.celrep.2024.114173. Epub 2024 May 2. Cell Rep. 2024. PMID: 38700984 Free article.
TCF4 Mutations Disrupt Synaptic Function Through Dysregulation of RIMBP2 in Patient-Derived Cortical Neurons.
Davis BA, Chen HY, Ye Z, Ostlund I, Tippani M, Das D, Sripathy SR, Wang Y, Martin JM, Shim G, Panchwagh NM, Moses RL, Farinelli F, Bohlen JF, Li M, Luikart BW, Jaffe AE, Maher BJ. Davis BA, et al. Among authors: luikart bw. Biol Psychiatry. 2024 Apr 1;95(7):662-675. doi: 10.1016/j.biopsych.2023.07.021. Epub 2023 Aug 10. Biol Psychiatry. 2024. PMID: 37573005
Single-cell analysis of the nervous system at small and large scales with instant partitions.
Frazel PW, Fricano-Kugler K, May-Zhang AA, O'Dea MR, Prakash P, Desmet NM, Lee H, Meltzer RH, Fontanez KM, Hettige P, Agam Y, Lithwick-Yanai G, Lipson D, Luikart BW, Dasen JD, Liddelow SA. Frazel PW, et al. Among authors: luikart bw. bioRxiv [Preprint]. 2023 Jul 18:2023.07.14.549051. doi: 10.1101/2023.07.14.549051. bioRxiv. 2023. PMID: 37503160 Free PMC article. Preprint.
TCF4 mutations disrupt synaptic function through dysregulation of RIMBP2 in patient-derived cortical neurons.
Davis BA, Chen HY, Ye Z, Ostlund I, Tippani M, Das D, Sripathy SR, Wang Y, Martin JM, Shim G, Panchwagh NM, Moses RL, Farinelli F, Bohlen JF, Li M, Luikart BW, Jaffe AE, Maher BJ. Davis BA, et al. Among authors: luikart bw. bioRxiv [Preprint]. 2023 Jan 20:2023.01.19.524788. doi: 10.1101/2023.01.19.524788. bioRxiv. 2023. Update in: Biol Psychiatry. 2024 Apr 1;95(7):662-675. doi: 10.1016/j.biopsych.2023.07.021. PMID: 36712024 Free PMC article. Updated. Preprint.
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