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Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model.
Polinski NK, Martinez TN, Gorodinsky A, Gareus R, Sasner M, Herberth M, Switzer R, Ahmad SO, Cosden M, Kandebo M, Drolet RE, Buckett PD, Shan W, Chen Y, Pellegrino LJ, Ellsworth GD, Dungan LB, Hirst WD, Clark SW, Dave KD. Polinski NK, et al. Among authors: pellegrino lj. PLoS One. 2021 Jun 9;16(6):e0252325. doi: 10.1371/journal.pone.0252325. eCollection 2021. PLoS One. 2021. PMID: 34106956 Free PMC article.
The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease.
Khanna R, Powe AC Jr, Lun Y, Soska R, Feng J, Dhulipala R, Frascella M, Garcia A, Pellegrino LJ, Xu S, Brignol N, Toth MJ, Do HV, Lockhart DJ, Wustman BA, Valenzano KJ. Khanna R, et al. Among authors: pellegrino lj. PLoS One. 2014 Jul 18;9(7):e102092. doi: 10.1371/journal.pone.0102092. eCollection 2014. PLoS One. 2014. PMID: 25036864 Free PMC article.
Co-administration with the pharmacological chaperone AT1001 increases recombinant human α-galactosidase A tissue uptake and improves substrate reduction in Fabry mice.
Benjamin ER, Khanna R, Schilling A, Flanagan JJ, Pellegrino LJ, Brignol N, Lun Y, Guillen D, Ranes BE, Frascella M, Soska R, Feng J, Dungan L, Young B, Lockhart DJ, Valenzano KJ. Benjamin ER, et al. Among authors: pellegrino lj. Mol Ther. 2012 Apr;20(4):717-26. doi: 10.1038/mt.2011.271. Epub 2012 Jan 3. Mol Ther. 2012. PMID: 22215019 Free PMC article.