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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: simpson em. Hum Mol Genet. 2020 Nov 25;29(19):3266-3284. doi: 10.1093/hmg/ddaa202. Hum Mol Genet. 2020. PMID: 32969477 Free PMC article.
Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease.
Slow EJ, van Raamsdonk J, Rogers D, Coleman SH, Graham RK, Deng Y, Oh R, Bissada N, Hossain SM, Yang YZ, Li XJ, Simpson EM, Gutekunst CA, Leavitt BR, Hayden MR. Slow EJ, et al. Among authors: simpson em. Hum Mol Genet. 2003 Jul 1;12(13):1555-67. doi: 10.1093/hmg/ddg169. Hum Mol Genet. 2003. PMID: 12812983
Als2-deficient mice exhibit disturbances in endosome trafficking associated with motor behavioral abnormalities.
Devon RS, Orban PC, Gerrow K, Barbieri MA, Schwab C, Cao LP, Helm JR, Bissada N, Cruz-Aguado R, Davidson TL, Witmer J, Metzler M, Lam CK, Tetzlaff W, Simpson EM, McCaffery JM, El-Husseini AE, Leavitt BR, Hayden MR. Devon RS, et al. Among authors: simpson em. Proc Natl Acad Sci U S A. 2006 Jun 20;103(25):9595-600. doi: 10.1073/pnas.0510197103. Epub 2006 Jun 12. Proc Natl Acad Sci U S A. 2006. PMID: 16769894 Free PMC article.
Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness.
Scalabrino ML, Boye SL, Fransen KM, Noel JM, Dyka FM, Min SH, Ruan Q, De Leeuw CN, Simpson EM, Gregg RG, McCall MA, Peachey NS, Boye SE. Scalabrino ML, et al. Among authors: simpson em. Hum Mol Genet. 2015 Nov 1;24(21):6229-39. doi: 10.1093/hmg/ddv341. Epub 2015 Aug 26. Hum Mol Genet. 2015. PMID: 26310623 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: simpson em. 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: simpson em. Elife. 2017 Oct 10;6:e28672. doi: 10.7554/eLife.28672. Elife. 2017. PMID: 28994651 Free PMC article.
109 results