Treatment of Gaucher disease

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Human acid-β-glucosidase complex with sulfate, 1ogs

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3D structures of acid-β-glucosidase


Additional Resources

For additional information, see: Metabolic Disorders


  1. Dvir H, Harel M, McCarthy AA, Toker L, Silman I, Futerman AH, Sussman JL. X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease. EMBO Rep. 2003 Jul;4(7):704-9. PMID:12792654 doi:10.1038/sj.embor.embor873
  2. 2.0 2.1 2.2 Premkumar L, Sawkar AR, Boldin-Adamsky S, Toker L, Silman I, Kelly JW, Futerman AH, Sussman JL. X-ray structure of human acid-beta-glucosidase covalently bound to conduritol-B-epoxide. Implications for Gaucher disease. J Biol Chem. 2005 Jun 24;280(25):23815-9. Epub 2005 Apr 6. PMID:15817452 doi:M502799200
  3. Hrmova M, Varghese JN, De Gori R, Smith BJ, Driguez H, Fincher GB. Catalytic mechanisms and reaction intermediates along the hydrolytic pathway of a plant beta-D-glucan glucohydrolase. Structure. 2001 Nov;9(11):1005-16. PMID:11709165
  4. Zeev-Ben-Mordehai T, Silman I, Sussman JL. Acetylcholinesterase in motion: visualizing conformational changes in crystal structures by a morphing procedure. Biopolymers. 2003 Mar;68(3):395-406. PMID:12601798 doi:10.1002/bip.10287
  5. 5.0 5.1 5.2 5.3 Shaaltiel Y, Bartfeld D, Hashmueli S, Baum G, Brill-Almon E, Galili G, Dym O, Boldin-Adamsky SA, Silman I, Sussman JL, Futerman AH, Aviezer D. Production of glucocerebrosidase with terminal mannose glycans for enzyme replacement therapy of Gaucher's disease using a plant cell system. Plant Biotechnol J. 2007 Sep;5(5):579-90. Epub 2007 May 24. PMID:17524049 doi:10.1111/j.1467-7652.2007.00263.x
  6. Brumshtein B, Greenblatt HM, Butters TD, Shaaltiel Y, Aviezer D, Silman I, Futerman AH, Sussman JL. Crystal structures of complexes of N-butyl- and N-nonyl-deoxynojirimycin bound to acid beta-glucosidase: insights into the mechanism of chemical chaperone action in Gaucher disease. J Biol Chem. 2007 Sep 28;282(39):29052-8. Epub 2007 Jul 31. PMID:17666401 doi:10.1074/jbc.M705005200
  7. Lieberman RL, Wustman BA, Huertas P, Powe AC Jr, Pine CW, Khanna R, Schlossmacher MG, Ringe D, Petsko GA. Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease. Nat Chem Biol. 2007 Feb;3(2):101-7. Epub 2006 Dec 24. PMID:17187079 doi:
  8. Brumshtein B, Wormald MR, Silman I, Futerman AH, Sussman JL. Structural comparison of differently glycosylated forms of acid-beta-glucosidase, the defective enzyme in Gaucher disease. Acta Crystallogr D Biol Crystallogr. 2006 Dec;62(Pt 12):1458-65. Epub 2006, Nov 23. PMID:17139081 doi:S0907444906038303
  9. 9.0 9.1 Brumshtein B, Salinas P, Peterson B, Chan V, Silman I, Sussman JL, Savickas PJ, Robinson GS, Futerman AH. Characterization of gene-activated human acid-beta-glucosidase: crystal structure, glycan composition, and internalization into macrophages. Glycobiology. 2010 Jan;20(1):24-32. Epub 2009 Sep 9. PMID:19741058 doi:10.1093/glycob/cwp138

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