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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: westbroek w. 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.
Glucocerebrosidase is shaking up the synucleinopathies.
Siebert M, Sidransky E, Westbroek W. Siebert M, et al. Among authors: westbroek w. 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.
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. 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.
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: westbroek w. J Neurosci. 2016 Jul 13;36(28):7441-52. doi: 10.1523/JNEUROSCI.0636-16.2016. J Neurosci. 2016. PMID: 27413154 Free PMC article.
Discovery of a novel noniminosugar acid α glucosidase chaperone series.
Xiao J, Westbroek W, Motabar O, Lea WA, Hu X, Velayati A, Zheng W, Southall N, Gustafson AM, Goldin E, Sidransky E, Liu K, Simeonov A, Tamargo RJ, Ribes A, Matalonga L, Ferrer M, Marugan JJ. Xiao J, et al. Among authors: westbroek w. J Med Chem. 2012 Sep 13;55(17):7546-59. doi: 10.1021/jm3005543. Epub 2012 Aug 17. J Med Chem. 2012. PMID: 22834902 Free PMC article.
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