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Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.
Yildiz Y, Hoffmann P, Vom Dahl S, Breiden B, Sandhoff R, Niederau C, Horwitz M, Karlsson S, Filocamo M, Elstein D, Beck M, Sandhoff K, Mengel E, Gonzalez MC, Nöthen MM, Sidransky E, Zimran A, Mattheisen M. Yildiz Y, et al. Orphanet J Rare Dis. 2013 Sep 26;8:151. doi: 10.1186/1750-1172-8-151. Orphanet J Rare Dis. 2013. PMID: 24070122 Free PMC article.
1-O-acylceramides are natural components of human and mouse epidermis.
Rabionet M, Bayerle A, Marsching C, Jennemann R, Gröne HJ, Yildiz Y, Wachten D, Shaw W, Shayman JA, Sandhoff R. Rabionet M, et al. Among authors: yildiz y. J Lipid Res. 2013 Dec;54(12):3312-21. doi: 10.1194/jlr.M040097. Epub 2013 Sep 27. J Lipid Res. 2013. PMID: 24078707 Free PMC article.
Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice.
Marques AR, Aten J, Ottenhoff R, van Roomen CP, Herrera Moro D, Claessen N, Vinueza Veloz MF, Zhou K, Lin Z, Mirzaian M, Boot RG, De Zeeuw CI, Overkleeft HS, Yildiz Y, Aerts JM. Marques AR, et al. Among authors: yildiz y. PLoS One. 2015 Aug 14;10(8):e0135889. doi: 10.1371/journal.pone.0135889. eCollection 2015. PLoS One. 2015. PMID: 26275242 Free PMC article.
Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humans.
Harzer K, Blech-Hermoni Y, Goldin E, Felderhoff-Mueser U, Igney C, Sidransky E, Yildiz Y. Harzer K, et al. Among authors: yildiz y. Biochem Biophys Res Commun. 2012 Jun 29;423(2):308-12. doi: 10.1016/j.bbrc.2012.05.117. Epub 2012 May 30. Biochem Biophys Res Commun. 2012. PMID: 22659419 Free PMC article.
408 results