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Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits.
Schultheis PJ, Fleming SM, Clippinger AK, Lewis J, Tsunemi T, Giasson B, Dickson DW, Mazzulli JR, Bardgett ME, Haik KL, Ekhator O, Chava AK, Howard J, Gannon M, Hoffman E, Chen Y, Prasad V, Linn SC, Tamargo RJ, Westbroek W, Sidransky E, Krainc D, Shull GE. Schultheis PJ, et al. Among authors: sidransky e. Hum Mol Genet. 2013 May 15;22(10):2067-82. doi: 10.1093/hmg/ddt057. Epub 2013 Feb 7. Hum Mol Genet. 2013. PMID: 23393156 Free PMC article.
The role of saposin C in Gaucher disease.
Tamargo RJ, Velayati A, Goldin E, Sidransky E. Tamargo RJ, et al. Among authors: sidransky e. Mol Genet Metab. 2012 Jul;106(3):257-63. doi: 10.1016/j.ymgme.2012.04.024. Epub 2012 May 5. Mol Genet Metab. 2012. PMID: 22652185 Free PMC article. Review.
Glucocerebrosidase is shaking up the synucleinopathies.
Siebert M, Sidransky E, Westbroek W. Siebert M, et al. Among authors: sidransky e. Brain. 2014 May;137(Pt 5):1304-22. doi: 10.1093/brain/awu002. Epub 2014 Feb 14. Brain. 2014. PMID: 24531622 Free PMC article. Review.
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: sidransky e. 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.
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: sidransky e. J Neurosci. 2016 Jul 13;36(28):7441-52. doi: 10.1523/JNEUROSCI.0636-16.2016. J Neurosci. 2016. PMID: 27413154 Free PMC article.
291 results