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Items: 1 to 20 of 106

1.

Comparison of a molecular dynamics model with the X-ray structure of the N370S acid-beta-glucosidase mutant that causes Gaucher disease.

Offman MN, Krol M, Rost B, Silman I, Sussman JL, Futerman AH.

Protein Eng Des Sel. 2011 Oct;24(10):773-5. doi: 10.1093/protein/gzr032. Epub 2011 Jul 1.

PMID:
21724649
2.

Structural comparison of differently glycosylated forms of acid-beta-glucosidase, the defective enzyme in Gaucher disease.

Brumshtein B, Wormald MR, Silman I, Futerman AH, Sussman JL.

Acta Crystallogr D Biol Crystallogr. 2006 Dec;62(Pt 12):1458-65. Epub 2006 Nov 23.

PMID:
17139081
3.

X-ray and biochemical analysis of N370S mutant human acid β-glucosidase.

Wei RR, Hughes H, Boucher S, Bird JJ, Guziewicz N, Van Patten SM, Qiu H, Pan CQ, Edmunds T.

J Biol Chem. 2011 Jan 7;286(1):299-308. doi: 10.1074/jbc.M110.150433. Epub 2010 Oct 27.

5.

X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease.

Dvir H, Harel M, McCarthy AA, Toker L, Silman I, Futerman AH, Sussman JL.

EMBO Rep. 2003 Jul;4(7):704-9.

6.

X-ray structure of human acid-beta-glucosidase covalently bound to conduritol-B-epoxide. Implications for Gaucher disease.

Premkumar L, Sawkar AR, Boldin-Adamsky S, Toker L, Silman I, Kelly JW, Futerman AH, Sussman JL.

J Biol Chem. 2005 Jun 24;280(25):23815-9. Epub 2005 Apr 6.

7.

Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles.

Sawkar AR, Adamski-Werner SL, Cheng WC, Wong CH, Beutler E, Zimmer KP, Kelly JW.

Chem Biol. 2005 Nov;12(11):1235-44.

8.

The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C.

Salvioli R, Tatti M, Scarpa S, Moavero SM, Ciaffoni F, Felicetti F, Kaneski CR, Brady RO, Vaccaro AM.

Biochem J. 2005 Aug 15;390(Pt 1):95-103.

9.

Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease.

Lieberman RL, Wustman BA, Huertas P, Powe AC Jr, Pine CW, Khanna R, Schlossmacher MG, Ringe D, Petsko GA.

Nat Chem Biol. 2007 Feb;3(2):101-7. Epub 2006 Dec 24.

PMID:
17187079
10.

Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations.

Alfonso P, Pampín S, Estrada J, Rodríguez-Rey JC, Giraldo P, Sancho J, Pocoví M.

Blood Cells Mol Dis. 2005 Sep-Oct;35(2):268-76.

PMID:
16039881
11.

Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease.

Serra-Vinardell J, Díaz L, Guitiérrez-de Terán H, Sánchez-Ollé G, Bujons J, Michelakakis H, Mavridou I, Aerts JM, Delgado A, Grinberg D, Vilageliu L, Casas J.

Int J Biochem Cell Biol. 2014 Sep;54:245-54. doi: 10.1016/j.biocel.2014.07.017. Epub 2014 Jul 30.

PMID:
25084554
12.

Gaucher disease.

Butters TD.

Curr Opin Chem Biol. 2007 Aug;11(4):412-8. Epub 2007 Jul 23. Review.

PMID:
17644022
13.

Chaperone activity of bicyclic nojirimycin analogues for Gaucher mutations in comparison with N-(n-nonyl)deoxynojirimycin.

Luan Z, Higaki K, Aguilar-Moncayo M, Ninomiya H, Ohno K, García-Moreno MI, Ortiz Mellet C, García Fernández JM, Suzuki Y.

Chembiochem. 2009 Nov 23;10(17):2780-92. doi: 10.1002/cbic.200900442.

PMID:
19830760
14.

Synthesis of N-substituted ε-hexonolactams as pharmacological chaperones for the treatment of N370S mutant Gaucher disease.

Wang GN, Twigg G, Butters TD, Zhang S, Zhang L, Zhang LH, Ye XS.

Org Biomol Chem. 2012 Apr 21;10(15):2923-7. doi: 10.1039/c2ob06987c. Epub 2012 Jan 27.

PMID:
22286559
15.

Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.

Montfort M, Chabás A, Vilageliu L, Grinberg D.

Hum Mutat. 2004 Jun;23(6):567-75. Erratum in: Hum Mutat. 2005 Sep;26(3):276.

PMID:
15146461
16.

An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease.

Atrian S, López-Viñas E, Gómez-Puertas P, Chabás A, Vilageliu L, Grinberg D.

Proteins. 2008 Feb 15;70(3):882-91.

PMID:
17803231
17.

Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.

Suwannarat P, Keeratichamroen S, Wattanasirichaigoon D, Ngiwsara L, Cairns JR, Svasti J, Visudtibhan A, Pangkanon S.

Blood Cells Mol Dis. 2007 Nov-Dec;39(3):348-52. Epub 2007 Aug 8.

PMID:
17689991
18.

Molecular and cell biology of acid beta-glucosidase and prosaposin.

Qi X, Grabowski GA.

Prog Nucleic Acid Res Mol Biol. 2001;66:203-39. Review. No abstract available.

PMID:
11051765
19.

Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.

Grace ME, Newman KM, Scheinker V, Berg-Fussman A, Grabowski GA.

J Biol Chem. 1994 Jan 21;269(3):2283-91.

20.

Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.

Liou B, Kazimierczuk A, Zhang M, Scott CR, Hegde RS, Grabowski GA.

J Biol Chem. 2006 Feb 17;281(7):4242-53. Epub 2005 Nov 17.

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