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Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course.
Tayebi N, Parisiadou L, Berhe B, Gonzalez AN, Serra-Vinardell J, Tamargo RJ, Maniwang E, Sorrentino Z, Fujiwara H, Grey RJ, Hassan S, Blech-Hermoni YN, Chen C, McGlinchey R, Makariou-Pikis C, Brooks M, Ginns EI, Ory DS, Giasson BI, Sidransky E. Tayebi N, et al. Among authors: ory ds. Mol Genet Metab. 2017 Dec;122(4):198-208. doi: 10.1016/j.ymgme.2017.11.001. Epub 2017 Nov 21. Mol Genet Metab. 2017. PMID: 29173981 Free PMC article.
Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann-Pick C1 (NPC1).
Tortelli B, Fujiwara H, Bagel JH, Zhang J, Sidhu R, Jiang X, Yanjanin NM, Shankar RK, Carillo-Carasco N, Heiss J, Ottinger E, Porter FD, Schaffer JE, Vite CH, Ory DS. Tortelli B, et al. Among authors: ory ds. Hum Mol Genet. 2014 Nov 15;23(22):6022-33. doi: 10.1093/hmg/ddu331. Epub 2014 Jun 25. Hum Mol Genet. 2014. PMID: 24964810 Free PMC article. Clinical Trial.
A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.
Aflaki E, Borger DK, Moaven N, Stubblefield BK, Rogers SA, Patnaik S, Schoenen FJ, Westbroek W, Zheng W, Sullivan P, Fujiwara H, Sidhu R, Khaliq ZM, Lopez GJ, Goldstein DS, Ory DS, Marugan J, Sidransky E. Aflaki E, et al. Among authors: ory ds. J Neurosci. 2016 Jul 13;36(28):7441-52. doi: 10.1523/JNEUROSCI.0636-16.2016. J Neurosci. 2016. PMID: 27413154 Free PMC article.
A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease.
Westbroek W, Nguyen M, Siebert M, Lindstrom T, Burnett RA, Aflaki E, Jung O, Tamargo R, Rodriguez-Gil JL, Acosta W, Hendrix A, Behre B, Tayebi N, Fujiwara H, Sidhu R, Renvoise B, Ginns EI, Dutra A, Pak E, Cramer C, Ory DS, Pavan WJ, Sidransky E. Westbroek W, et al. Among authors: ory ds. Dis Model Mech. 2016 Jul 1;9(7):769-78. doi: 10.1242/dmm.024588. Epub 2016 May 19. Dis Model Mech. 2016. PMID: 27482815 Free PMC article.
Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann-Pick disease type C1 mice.
Davidson CD, Gibson AL, Gu T, Baxter LL, Deverman BE, Beadle K, Incao AA, Rodriguez-Gil JL, Fujiwara H, Jiang X, Chandler RJ, Ory DS, Gradinaru V, Venditti CP, Pavan WJ. Davidson CD, et al. Among authors: ory ds. Life Sci Alliance. 2021 Aug 18;4(10):e202101040. doi: 10.26508/lsa.202101040. Print 2021 Oct. Life Sci Alliance. 2021. PMID: 34407999 Free PMC article.
167 results