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2017 | 1 |
2020 | 1 |
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Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility.
J Clin Invest. 2006 Nov;116(11):2985-94. doi: 10.1172/JCI29224.
J Clin Invest. 2006.
PMID: 17080196
Free PMC article.
The non-lysosomal β-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi.
Körschen HG, Yildiz Y, Raju DN, Schonauer S, Bönigk W, Jansen V, Kremmer E, Kaupp UB, Wachten D.
Körschen HG, et al.
J Biol Chem. 2013 Feb 1;288(5):3381-93. doi: 10.1074/jbc.M112.414714. Epub 2012 Dec 17.
J Biol Chem. 2013.
PMID: 23250757
Free PMC article.
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Accumulation of glucosylceramide in the absence of the beta-glucosidase GBA2 alters cytoskeletal dynamics.
Raju D, Schonauer S, Hamzeh H, Flynn KC, Bradke F, Vom Dorp K, Dörmann P, Yildiz Y, Trötschel C, Poetsch A, Breiden B, Sandhoff K, Körschen HG, Wachten D.
Raju D, et al.
PLoS Genet. 2015 Mar 24;11(3):e1005063. doi: 10.1371/journal.pgen.1005063. eCollection 2015 Mar.
PLoS Genet. 2015.
PMID: 25803043
Free PMC article.
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Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases.
Marques AR, Mirzaian M, Akiyama H, Wisse P, Ferraz MJ, Gaspar P, Ghauharali-van der Vlugt K, Meijer R, Giraldo P, Alfonso P, Irún P, Dahl M, Karlsson S, Pavlova EV, Cox TM, Scheij S, Verhoek M, Ottenhoff R, van Roomen CP, Pannu NS, van Eijk M, Dekker N, Boot RG, Overkleeft HS, Blommaart E, Hirabayashi Y, Aerts JM.
Marques AR, et al.
J Lipid Res. 2016 Mar;57(3):451-63. doi: 10.1194/jlr.M064923. Epub 2016 Jan 2.
J Lipid Res. 2016.
PMID: 26724485
Free PMC article.
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Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease.
Schonauer S, Körschen HG, Penno A, Rennhack A, Breiden B, Sandhoff K, Gutbrod K, Dörmann P, Raju DN, Haberkant P, Gerl MJ, Brügger B, Zigdon H, Vardi A, Futerman AH, Thiele C, Wachten D.
Schonauer S, et al.
J Biol Chem. 2017 Apr 14;292(15):6177-6189. doi: 10.1074/jbc.M116.762831. Epub 2017 Mar 3.
J Biol Chem. 2017.
PMID: 28258214
Free PMC article.
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Glucocerebrosidases catalyze a transgalactosylation reaction that yields a newly-identified brain sterol metabolite, galactosylated cholesterol.
Akiyama H, Ide M, Nagatsuka Y, Sayano T, Nakanishi E, Uemura N, Yuyama K, Yamaguchi Y, Kamiguchi H, Takahashi R, Aerts JMFG, Greimel P, Hirabayashi Y.
Akiyama H, et al.
J Biol Chem. 2020 Apr 17;295(16):5257-5277. doi: 10.1074/jbc.RA119.012502. Epub 2020 Mar 6.
J Biol Chem. 2020.
PMID: 32144204
Free PMC article.
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