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A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.
Al-Shekaili HH, Petkau TL, Pena I, Lengyell TC, Verhoeven-Duif NM, Ciapaite J, Bosma M, van Faassen M, Kema IP, Horvath G, Ross C, Simpson EM, Friedman JM, van Karnebeek C, Leavitt BR. Al-Shekaili HH, et al. Among authors: lengyell tc. Hum Mol Genet. 2020 Nov 25;29(19):3266-3284. doi: 10.1093/hmg/ddaa202. Hum Mol Genet. 2020. PMID: 32969477 Free PMC article.
rAAV-compatible MiniPromoters for restricted expression in the brain and eye.
de Leeuw CN, Korecki AJ, Berry GE, Hickmott JW, Lam SL, Lengyell TC, Bonaguro RJ, Borretta LJ, Chopra V, Chou AY, D'Souza CA, Kaspieva O, Laprise S, McInerny SC, Portales-Casamar E, Swanson-Newman MI, Wong K, Yang GS, Zhou M, Jones SJ, Holt RA, Asokan A, Goldowitz D, Wasserman WW, Simpson EM. de Leeuw CN, et al. Among authors: lengyell tc. Mol Brain. 2016 May 10;9(1):52. doi: 10.1186/s13041-016-0232-4. Mol Brain. 2016. PMID: 27164903 Free PMC article.
HMMR acts in the PLK1-dependent spindle positioning pathway and supports neural development.
Connell M, Chen H, Jiang J, Kuan CW, Fotovati A, Chu TL, He Z, Lengyell TC, Li H, Kroll T, Li AM, Goldowitz D, Frappart L, Ploubidou A, Patel MS, Pilarski LM, Simpson EM, Lange PF, Allan DW, Maxwell CA. Connell M, et al. Among authors: lengyell tc. Elife. 2017 Oct 10;6:e28672. doi: 10.7554/eLife.28672. Elife. 2017. PMID: 28994651 Free PMC article.