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A mutation in SCARB2 is a modifier in Gaucher disease.
Velayati A, DePaolo J, Gupta N, Choi JH, Moaven N, Westbroek W, Goker-Alpan O, Goldin E, Stubblefield BK, Kolodny E, Tayebi N, Sidransky E. Velayati A, et al. Among authors: goldin e. Hum Mutat. 2011 Nov;32(11):1232-8. doi: 10.1002/humu.21566. Epub 2011 Sep 15. Hum Mutat. 2011. PMID: 21796727 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: goldin 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.
Non-iminosugar glucocerebrosidase small molecule chaperones.
Marugan JJ, Huang W, Motabar O, Zheng W, Xiao J, Patnaik S, Southall N, Westbroek W, Lea WA, Simeonov A, Goldin E, Debernardi MA, Sidransky E. Marugan JJ, et al. Among authors: goldin e. Medchemcomm. 2012 Jan;3(1):56-60. doi: 10.1039/C1MD00200G. Epub 2011 Oct 24. Medchemcomm. 2012. PMID: 22606365 Free PMC article.
Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease.
Panicker LM, Miller D, Park TS, Patel B, Azevedo JL, Awad O, Masood MA, Veenstra TD, Goldin E, Stubblefield BK, Tayebi N, Polumuri SK, Vogel SN, Sidransky E, Zambidis ET, Feldman RA. Panicker LM, et al. Among authors: goldin e. Proc Natl Acad Sci U S A. 2012 Oct 30;109(44):18054-9. doi: 10.1073/pnas.1207889109. Epub 2012 Oct 15. Proc Natl Acad Sci U S A. 2012. PMID: 23071332 Free PMC article.
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: goldin 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.
305 results