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Page 1
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.
Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, Woodbury-Smith M, Ho KS, Harward E, Murtaza N, Dave B, Pellecchia G, D'Abate L, Nalpathamkalam T, Lamoureux S, Wei J, Speevak M, Stavropoulos J, Hope KJ, Doble BW, Nielsen J, Wassman ER, Scherer SW, Singh KK. Uddin M, et al. Among authors: singh kk. Am J Hum Genet. 2018 Feb 1;102(2):278-295. doi: 10.1016/j.ajhg.2018.01.006. Am J Hum Genet. 2018. PMID: 29395074 Free PMC article.
Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling.
Richter M, Murtaza N, Scharrenberg R, White SH, Johanns O, Walker S, Yuen RKC, Schwanke B, Bedürftig B, Henis M, Scharf S, Kraus V, Dörk R, Hellmann J, Lindenmaier Z, Ellegood J, Hartung H, Kwan V, Sedlacik J, Fiehler J, Schweizer M, Lerch JP, Hanganu-Opatz IL, Morellini F, Scherer SW, Singh KK, Calderon de Anda F. Richter M, et al. Among authors: singh kk. Mol Psychiatry. 2019 Sep;24(9):1329-1350. doi: 10.1038/s41380-018-0025-5. Epub 2018 Feb 21. Mol Psychiatry. 2019. PMID: 29467497 Free PMC article.
TAOK2 rescues autism-linked developmental deficits in a 16p11.2 microdeletion mouse model.
Scharrenberg R, Richter M, Johanns O, Meka DP, Rücker T, Murtaza N, Lindenmaier Z, Ellegood J, Naumann A, Zhao B, Schwanke B, Sedlacik J, Fiehler J, Hanganu-Opatz IL, Lerch JP, Singh KK, de Anda FC. Scharrenberg R, et al. Among authors: singh kk. Mol Psychiatry. 2022 Nov;27(11):4707-4721. doi: 10.1038/s41380-022-01785-3. Epub 2022 Sep 19. Mol Psychiatry. 2022. PMID: 36123424 Free PMC article.
Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies.
Murtaza N, Cheng AA, Brown CO, Meka DP, Hong S, Uy JA, El-Hajjar J, Pipko N, Unda BK, Schwanke B, Xing S, Thiruvahindrapuram B, Engchuan W, Trost B, Deneault E, Calderon de Anda F, Doble BW, Ellis J, Anagnostou E, Bader GD, Scherer SW, Lu Y, Singh KK. Murtaza N, et al. Among authors: singh kk. Cell Rep. 2022 Nov 22;41(8):111678. doi: 10.1016/j.celrep.2022.111678. Cell Rep. 2022. PMID: 36417873 Free article.
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. Among authors: singh kk. 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.
The autism susceptibility kinase, TAOK2, phosphorylates eEF2 and modulates translation.
Henis M, Rücker T, Scharrenberg R, Richter M, Baltussen L, Hong S, Meka DP, Schwanke B, Neelagandan N, Daaboul D, Murtaza N, Krisp C, Harder S, Schlüter H, Kneussel M, Hermans-Borgmeyer I, de Wit J, Singh KK, Duncan KE, de Anda FC. Henis M, et al. Among authors: singh kk. Sci Adv. 2024 Apr 12;10(15):eadf7001. doi: 10.1126/sciadv.adf7001. Epub 2024 Apr 12. Sci Adv. 2024. PMID: 38608030 Free PMC article.
781 results