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Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage.
Mistry PK, Liu J, Yang M, Nottoli T, McGrath J, Jain D, Zhang K, Keutzer J, Chuang WL, Mehal WZ, Zhao H, Lin A, Mane S, Liu X, Peng YZ, Li JH, Agrawal M, Zhu LL, Blair HC, Robinson LJ, Iqbal J, Sun L, Zaidi M. Mistry PK, et al. Among authors: keutzer j. Proc Natl Acad Sci U S A. 2010 Nov 9;107(45):19473-8. doi: 10.1073/pnas.1003308107. Epub 2010 Oct 20. Proc Natl Acad Sci U S A. 2010. PMID: 20962279 Free PMC article.
Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.
Mistry PK, Liu J, Sun L, Chuang WL, Yuen T, Yang R, Lu P, Zhang K, Li J, Keutzer J, Stachnik A, Mennone A, Boyer JL, Jain D, Brady RO, New MI, Zaidi M. Mistry PK, et al. Among authors: keutzer j. Proc Natl Acad Sci U S A. 2014 Apr 1;111(13):4934-9. doi: 10.1073/pnas.1400768111. Epub 2014 Mar 17. Proc Natl Acad Sci U S A. 2014. PMID: 24639522 Free PMC article.
Glucosylsphingosine is a key biomarker of Gaucher disease.
Murugesan V, Chuang WL, Liu J, Lischuk A, Kacena K, Lin H, Pastores GM, Yang R, Keutzer J, Zhang K, Mistry PK. Murugesan V, et al. Among authors: keutzer j. Am J Hematol. 2016 Nov;91(11):1082-1089. doi: 10.1002/ajh.24491. Epub 2016 Aug 8. Am J Hematol. 2016. PMID: 27441734 Free PMC article.
51 results