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N4-phenyl modifications of N2-(2-hydroxyl)ethyl-6-(pyrrolidin-1-yl)-1,3,5-triazine-2,4-diamines enhance glucocerebrosidase inhibition by small molecules with potential as chemical chaperones for Gaucher disease.
Huang W, Zheng W, Urban DJ, Inglese J, Sidransky E, Austin CP, Thomas CJ. Huang W, et al. Among authors: sidransky e. Bioorg Med Chem Lett. 2007 Nov 1;17(21):5783-9. doi: 10.1016/j.bmcl.2007.08.050. Epub 2007 Aug 28. Bioorg Med Chem Lett. 2007. PMID: 17827006 Free PMC article.
The E326K mutation and Gaucher disease: mutation or polymorphism?
Park JK, Tayebi N, Stubblefield BK, LaMarca ME, MacKenzie JJ, Stone DL, Sidransky E. Park JK, et al. Among authors: sidransky e. Clin Genet. 2002 Jan;61(1):32-4. doi: 10.1034/j.1399-0004.2002.610106.x. Clin Genet. 2002. PMID: 11903352
Glucocerebrosidase mutations in subjects with parkinsonism.
Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME, Sidransky E. Lwin A, et al. Among authors: sidransky e. Mol Genet Metab. 2004 Jan;81(1):70-3. doi: 10.1016/j.ymgme.2003.11.004. Mol Genet Metab. 2004. PMID: 14728994
Parkinsonism among Gaucher disease carriers.
Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E. Goker-Alpan O, et al. Among authors: sidransky e. J Med Genet. 2004 Dec;41(12):937-40. doi: 10.1136/jmg.2004.024455. J Med Genet. 2004. PMID: 15591280 Free PMC article.
Gaucher disease and parkinsonism.
Sidransky E. Sidransky E. Mol Genet Metab. 2005 Apr;84(4):302-4. doi: 10.1016/j.ymgme.2004.11.007. Epub 2005 Jan 26. Mol Genet Metab. 2005. PMID: 15781189 Review. No abstract available.
Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease.
Zheng W, Padia J, Urban DJ, Jadhav A, Goker-Alpan O, Simeonov A, Goldin E, Auld D, LaMarca ME, Inglese J, Austin CP, Sidransky E. Zheng W, et al. Among authors: sidransky e. Proc Natl Acad Sci U S A. 2007 Aug 7;104(32):13192-7. doi: 10.1073/pnas.0705637104. Epub 2007 Aug 1. Proc Natl Acad Sci U S A. 2007. PMID: 17670938 Free PMC article.
296 results