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Items: 1 to 20 of 37

1.

Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies.

Geiger JT, Ding J, Crain B, Pletnikova O, Letson C, Dawson TM, Rosenthal LS, Pantelyat A, Gibbs JR, Albert MS, Hernandez DG, Hillis AE, Stone DJ, Singleton AB; North American Brain Expression Consortium, Hardy JA, Troncoso JC, Scholz SW.

Neurobiol Dis. 2016 Oct;94:55-62. doi: 10.1016/j.nbd.2016.06.004. Epub 2016 Jun 14.

PMID:
27312774
2.

Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S.

Hoitsema K, Amato D, Khan A, Sirrs S, Choy FY.

Meta Gene. 2016 Mar 23;9:47-51. doi: 10.1016/j.mgene.2016.03.003. eCollection 2016 Sep.

3.

Bacterial β-Glucosidase Reveals the Structural and Functional Basis of Genetic Defects in Human Glucocerebrosidase 2 (GBA2).

Charoenwattanasatien R, Pengthaisong S, Breen I, Mutoh R, Sansenya S, Hua Y, Tankrathok A, Wu L, Songsiriritthigul C, Tanaka H, Williams SJ, Davies GJ, Kurisu G, Cairns JR.

ACS Chem Biol. 2016 Jul 15;11(7):1891-900. doi: 10.1021/acschembio.6b00192. Epub 2016 May 6.

4.

A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease.

Liu LY, Liu F, Du SC, Jiang SY, Wang HJ, Zhang J, Wang W, Ma D.

Chin Med J (Engl). 2016 May 5;129(9):1072-7. doi: 10.4103/0366-6999.180523.

5.

Characterization of the complex formed by β-glucocerebrosidase and the lysosomal integral membrane protein type-2.

Zunke F, Andresen L, Wesseler S, Groth J, Arnold P, Rothaug M, Mazzulli JR, Krainc D, Blanz J, Saftig P, Schwake M.

Proc Natl Acad Sci U S A. 2016 Apr 5;113(14):3791-6. doi: 10.1073/pnas.1514005113. Epub 2016 Mar 21.

PMID:
27001828
6.

Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease.

Bennett LL, Turcotte K.

Drug Des Devel Ther. 2015 Aug 18;9:4639-47. doi: 10.2147/DDDT.S77760. eCollection 2015. Review. Erratum in: Drug Des Devel Ther. 2015;9:5213.

7.

Did α-Synuclein and Glucocerebrosidase Coevolve? Implications for Parkinson's Disease.

Gruschus JM.

PLoS One. 2015 Jul 27;10(7):e0133863. doi: 10.1371/journal.pone.0133863. eCollection 2015.

8.

Tool compounds robustly increase turnover of an artificial substrate by glucocerebrosidase in human brain lysates.

Berger Z, Perkins S, Ambroise C, Oborski C, Calabrese M, Noell S, Riddell D, Hirst WD.

PLoS One. 2015 Mar 12;10(3):e0119141. doi: 10.1371/journal.pone.0119141. eCollection 2015.

9.

Direct site-specific glycoform identification and quantitative comparison of glycoprotein therapeutics: imiglucerase and velaglucerase alfa.

Ye H, Hill J, Gucinski AC, Boyne MT 2nd, Buhse LF.

AAPS J. 2015 Mar;17(2):405-15. doi: 10.1208/s12248-014-9706-4. Epub 2014 Dec 13.

10.

Structural features of membrane-bound glucocerebrosidase and α-synuclein probed by neutron reflectometry and fluorescence spectroscopy.

Yap TL, Jiang Z, Heinrich F, Gruschus JM, Pfefferkorn CM, Barros M, Curtis JE, Sidransky E, Lee JC.

J Biol Chem. 2015 Jan 9;290(2):744-54. doi: 10.1074/jbc.M114.610584. Epub 2014 Nov 26.

11.

A sensitive gel-based method combining distinct cyclophellitol-based probes for the identification of acid/base residues in human retaining β-glucosidases.

Kallemeijn WW, Witte MD, Voorn-Brouwer TM, Walvoort MT, Li KY, Codée JD, van der Marel GA, Boot RG, Overkleeft HS, Aerts JM.

J Biol Chem. 2014 Dec 19;289(51):35351-62. doi: 10.1074/jbc.M114.593376. Epub 2014 Oct 24.

12.

Lysosome sorting of β-glucocerebrosidase by LIMP-2 is targeted by the mannose 6-phosphate receptor.

Zhao Y, Ren J, Padilla-Parra S, Fry EE, Stuart DI.

Nat Commun. 2014 Jul 14;5:4321. doi: 10.1038/ncomms5321.

13.

Gaucher disease: transcriptome analyses using microarray or mRNA sequencing in a Gba1 mutant mouse model treated with velaglucerase alfa or imiglucerase.

Dasgupta N, Xu YH, Oh S, Sun Y, Jia L, Keddache M, Grabowski GA.

PLoS One. 2013 Oct 4;8(10):e74912. doi: 10.1371/journal.pone.0074912. eCollection 2013.

14.

Functional analysis of 11 novel GBA alleles.

Malini E, Grossi S, Deganuto M, Rosano C, Parini R, Dominisini S, Cariati R, Zampieri S, Bembi B, Filocamo M, Dardis A.

Eur J Hum Genet. 2014 Apr;22(4):511-6. doi: 10.1038/ejhg.2013.182. Epub 2013 Sep 11.

15.

Glycosylation and functionality of recombinant β-glucocerebrosidase from various production systems.

Tekoah Y, Tzaban S, Kizhner T, Hainrichson M, Gantman A, Golembo M, Aviezer D, Shaaltiel Y.

Biosci Rep. 2013 Sep 25;33(5). pii: e00071. doi: 10.1042/BSR20130081.

16.

Membrane-bound α-synuclein interacts with glucocerebrosidase and inhibits enzyme activity.

Yap TL, Velayati A, Sidransky E, Lee JC.

Mol Genet Metab. 2013 Jan;108(1):56-64. doi: 10.1016/j.ymgme.2012.11.010. Epub 2012 Nov 28.

17.

Molecular and biochemical analyses of the GH44 module of CbMan5B/Cel44A, a bifunctional enzyme from the hyperthermophilic bacterium Caldicellulosiruptor bescii.

Ye L, Su X, Schmitz GE, Moon YH, Zhang J, Mackie RI, Cann IK.

Appl Environ Microbiol. 2012 Oct;78(19):7048-59. doi: 10.1128/AEM.02009-12. Epub 2012 Jul 27.

18.

A Guided Tour of the Structural Biology of Gaucher Disease: Acid-β-Glucosidase and Saposin C.

Lieberman RL.

Enzyme Res. 2011;2011:973231. doi: 10.4061/2011/973231. Epub 2011 Nov 22.

19.

Binding of 3,4,5,6-tetrahydroxyazepanes to the acid-β-glucosidase active site: implications for pharmacological chaperone design for Gaucher disease.

Orwig SD, Tan YL, Grimster NP, Yu Z, Powers ET, Kelly JW, Lieberman RL.

Biochemistry. 2011 Dec 13;50(49):10647-57. doi: 10.1021/bi201619z. Epub 2011 Nov 14.

20.

Chemical and biological approaches for adapting proteostasis to ameliorate protein misfolding and aggregation diseases: progress and prognosis.

Lindquist SL, Kelly JW.

Cold Spring Harb Perspect Biol. 2011 Dec 1;3(12). pii: a004507. doi: 10.1101/cshperspect.a004507. Review.

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