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Items: 1 to 20 of 2877

1.

Conversion of Quinazoline Modulators from Inhibitors to Activators of β-Glucocerebrosidase.

Zheng J, Jeon S, Jiang W, Burbulla LF, Ysselstein D, Oevel K, Krainc D, Silverman RB.

J Med Chem. 2019 Jan 15. doi: 10.1021/acs.jmedchem.8b01294. [Epub ahead of print]

PMID:
30645117
2.

Distinguishing Dementia With Lewy Bodies From Alzheimer's Disease: What is the Influence of the GBA Genotype in Ashkenazi Jews?

Bregman N, Kavé G, Mirelman A, Thaler A, Gana Weisz M, Bar-Shira A, Orr-Urtreger A, Giladi N, Shiner T.

Alzheimer Dis Assoc Disord. 2019 Jan 10. doi: 10.1097/WAD.0000000000000283. [Epub ahead of print]

PMID:
30640255
3.

Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene.

Gustavsson N, Marote A, Pomeshchik Y, Russ K, Azevedo C, Chumarina M, Goldwurm S, Collin A, Pinto L, Salgado AJ, Klementieva O, Roybon L, Savchenko E.

Stem Cell Res. 2018 Dec 26;34:101373. doi: 10.1016/j.scr.2018.101373. [Epub ahead of print]

4.

[Gaucher disease: A review].

Nguyen Y, Stirnemann J, Belmatoug N.

Rev Med Interne. 2019 Jan 10. pii: S0248-8663(18)31185-8. doi: 10.1016/j.revmed.2018.11.012. [Epub ahead of print] French.

PMID:
30638965
5.

A comparative computational approach toward pharmacological chaperones (NN-DNJ and ambroxol) on N370S and L444P mutations causing Gaucher's disease.

Thirumal Kumar D, Iyer S, Christy JP, Siva R, Tayubi IA, George Priya Doss C, Zayed H.

Adv Protein Chem Struct Biol. 2019;114:315-339. doi: 10.1016/bs.apcsb.2018.10.002. Epub 2018 Dec 1.

PMID:
30635084
6.

Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases.

Ivanova MM, Changsila E, Iaonou C, Goker-Alpan O.

PLoS One. 2019 Jan 11;14(1):e0210617. doi: 10.1371/journal.pone.0210617. eCollection 2019.

7.

The Clinical Efficacy of Imiglucerase versus Eliglustat in Patients with Gaucher's Disease Type 1: A Systematic Review.

Nabizadeh A, Amani B, Kadivar M, Toroski M, Asl AA, Bayazidi Y, Mojahedian M, Davari M.

J Res Pharm Pract. 2018 Oct-Dec;7(4):171-177. doi: 10.4103/jrpp.JRPP_18_24. Review.

8.

Dermal Phospho-Alpha-Synuclein Deposition in Patients With Parkinson's Disease and Mutation of the Glucocerebrosidase Gene.

Doppler K, Brockmann K, Sedghi A, Wurster I, Volkmann J, Oertel WH, Sommer C.

Front Neurol. 2018 Dec 17;9:1094. doi: 10.3389/fneur.2018.01094. eCollection 2018.

9.

Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder.

Winter AW, Salimi A, Ospina LH, Roos JCP.

Br J Ophthalmol. 2019 Jan 5. pii: bjophthalmol-2018-312846. doi: 10.1136/bjophthalmol-2018-312846. [Epub ahead of print]

PMID:
30612093
10.

Rebamipide Mitigates Impairments in Mitochondrial Function and Bioenergetics with α-Synuclein Pathology in 6-OHDA-Induced Hemiparkinson's Model in Rats.

Mishra A, Krishnamurthy S.

Neurotox Res. 2019 Jan 4. doi: 10.1007/s12640-018-9983-2. [Epub ahead of print]

PMID:
30610666
11.

Generation of two iPSC lines derived from two unrelated patients with Gaucher disease.

Nagel M, Reichbauer J, Böhringer J, Schelling Y, Krägeloh-Mann I, Schüle R, Ulmer U.

Stem Cell Res. 2018 Nov 18:101336. doi: 10.1016/j.scr.2018.10.021. [Epub ahead of print]

12.

In vivo inactivation of glycosidases by conduritol B epoxide and cyclophellitol as revealed by activity-based protein profiling.

Kuo CL, Kallemeijn WW, Lelieveld LT, Mirzaian M, Zoutendijk I, Vardi A, Futerman AH, Meijer AH, Spaink HP, Overkleeft HS, Aerts JMFG, Artola M.

FEBS J. 2019 Jan 1. doi: 10.1111/febs.14744. [Epub ahead of print]

PMID:
30600575
13.

Gaucher Disease: New Expanded Classification Emphasizing Neurological Features.

Alaei MR, Tabrizi A, Jafari N, Mozafari H.

Iran J Child Neurol. 2019 Winter;13(1):7-24. Review.

PMID:
30598670
14.

Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine.

Blandini F, Cilia R, Cerri S, Pezzoli G, Schapira AHV, Mullin S, Lanciego JL.

Mov Disord. 2019 Jan;34(1):9-21. doi: 10.1002/mds.27583. Epub 2018 Dec 27. Review.

PMID:
30589955
15.

Validation of anti-glucocerebrosidase antibodies for western blot analysis on protein lysates of murine and human cells.

Qi W, Davidson B, Nguyen M, Lindstrom T, Grey RJ, Burnett R, Aflaki E, Sidransky E, Westbroek W.

Biochem J. 2018 Dec 21. pii: BCJ20180708. doi: 10.1042/BCJ20180708. [Epub ahead of print]

PMID:
30578288
16.

Small Bowel Mucosal Involvement and Mesenteric Mass Formation in a Young Female with Type 3 Gaucher Disease. A Case Report.

Emanuel AJ, Holman N, Presnell SE, Welsh CT, Pai S, Sun S.

J Gastrointestin Liver Dis. 2018 Dec;27(4):459-463. doi: 10.15403/jgld.2014.1121.274.bow.

17.

Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion.

Ichinose Y, Ishiura H, Tanaka M, Yoshimura J, Doi K, Umeda T, Yamauchi H, Tsuchiya M, Koh K, Yamashiro N, Mitsui J, Goto J, Onishi H, Ohtsuka T, Shindo K, Morishita S, Tsuji S, Takiyama Y.

Parkinsonism Relat Disord. 2018 Dec 2. pii: S1353-8020(18)30525-X. doi: 10.1016/j.parkreldis.2018.11.028. [Epub ahead of print]

18.

Development and biochemical characterization of a mouse model of Parkinson's disease bearing defective glucocerebrosidase activity.

Mus L, Siani F, Giuliano C, Ghezzi C, Cerri S, Blandini F.

Neurobiol Dis. 2018 Dec 4;124:289-296. doi: 10.1016/j.nbd.2018.12.001. [Epub ahead of print]

PMID:
30521842
19.

Genetic analysis of the glucocerebrosidase gene in South Indian patients with Parkinson's disease.

Yadav R, Kapoor S, Madhukar M, Naduthota RM, Kumar A, Pal PK.

Neurol India. 2018 Nov-Dec;66(6):1649-1654. doi: 10.4103/0028-3886.246249.

20.

The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase.

Fog CK, Zago P, Malini E, Solanko LM, Peruzzo P, Bornaes C, Magnoni R, Mehmedbasic A, Petersen NHT, Bembi B, Aerts JFMG, Dardis A, Kirkegaard T.

EBioMedicine. 2018 Dec;38:142-153. doi: 10.1016/j.ebiom.2018.11.037. Epub 2018 Nov 27.

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