Vilageliu L - Search Results

1

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

Serra-Vinardell J, Díaz L, Gutiérrez-de Terán H, Sánchez-Ollé G, Bujons J, Michelakakis H, Mavridou I, Aerts JM, Delgado A, Grinberg D, Vilageliu L, Casas J. Serra-Vinardell J, et al. Among authors: vilageliu l. Int J Biochem Cell Biol. 2014 Sep;54:245-54. doi: 10.1016/j.biocel.2014.07.017. Epub 2014 Jul 30. Int J Biochem Cell Biol. 2014. PMID: 25084554

2

Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease.

Sánchez-Ollé G, Duque J, Egido-Gabás M, Casas J, Lluch M, Chabás A, Grinberg D, Vilageliu L. Sánchez-Ollé G, et al. Among authors: vilageliu l. Blood Cells Mol Dis. 2009 Mar-Apr;42(2):159-66. doi: 10.1016/j.bcmd.2008.11.002. Epub 2009 Jan 22. Blood Cells Mol Dis. 2009. PMID: 19167250

3

Glucocerebrosidase enhancers for selected Gaucher disease genotypes by modification of α-1-C-substituted imino-D-xylitols (DIXs) by click chemistry.

Serra-Vinardell J, Díaz L, Casas J, Grinberg D, Vilageliu L, Michelakakis H, Mavridou I, Aerts JM, Decroocq C, Compain P, Delgado A. Serra-Vinardell J, et al. Among authors: vilageliu l. ChemMedChem. 2014 Aug;9(8):1744-54. doi: 10.1002/cmdc.201402023. Epub 2014 Jun 27. ChemMedChem. 2014. PMID: 24976039

4

Involvement of Gaucher Disease Mutations in Parkinson Disease.

Vilageliu L, Grinberg D. Vilageliu L, et al. Curr Protein Pept Sci. 2017;18(7):758-764. doi: 10.2174/1389203717666160311115956. Curr Protein Pept Sci. 2017. PMID: 26965692 Review.

5

Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.

Santamaria R, Michelakakis H, Moraitou M, Dimitriou E, Dominissini S, Grossi S, Sánchez-Ollé G, Chabás A, Pittis MG, Filocamo M, Vilageliu L, Grinberg D. Santamaria R, et al. Among authors: vilageliu l. Hum Mutat. 2008 Jun;29(6):E58-67. doi: 10.1002/humu.20776. Hum Mutat. 2008. PMID: 18429048

6

β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease.

Moraitou M, Hadjigeorgiou G, Monopolis I, Dardiotis E, Bozi M, Vassilatis D, Vilageliu L, Grinberg D, Xiromerisiou G, Stefanis L, Michelakakis H. Moraitou M, et al. Among authors: vilageliu l. Mol Genet Metab. 2011 Sep-Oct;104(1-2):149-52. doi: 10.1016/j.ymgme.2011.06.015. Epub 2011 Jun 24. Mol Genet Metab. 2011. PMID: 21745757

7

The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.

Dimitriou E, Cozar M, Mavridou I, Grinberg D, Vilageliu L, Michelakakis H. Dimitriou E, et al. Among authors: vilageliu l. JIMD Rep. 2016;25:57-64. doi: 10.1007/8904_2015_457. Epub 2015 Jun 25. JIMD Rep. 2016. PMID: 26108647 Free PMC article.

8

Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.

Dimitriou E, Moraitou M, Cozar M, Serra-Vinardell J, Vilageliu L, Grinberg D, Mavridou I, Michelakakis H. Dimitriou E, et al. Among authors: vilageliu l. Mol Genet Metab Rep. 2020 Jun 7;24:100614. doi: 10.1016/j.ymgmr.2020.100614. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32547927 Free PMC article.

9

Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease.

Diaz-Font A, Cormand B, Chabás A, Vilageliu L, Grinberg D. Diaz-Font A, et al. Among authors: vilageliu l. Blood Cells Mol Dis. 2003 Sep-Oct;31(2):183-6. doi: 10.1016/s1079-9796(03)00157-8. Blood Cells Mol Dis. 2003. PMID: 12972023

10

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. Montfort M, et al. Among authors: vilageliu l. Hum Mutat. 2004 Jun;23(6):567-75. doi: 10.1002/humu.20043. Hum Mutat. 2004. PMID: 15146461

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