Rodríguez-Rey JC - Search Results

1

Bicyclic derivatives of L-idonojirimycin as pharmacological chaperones for neuronopathic forms of Gaucher disease.

Alfonso P, Andreu V, Pino-Angeles A, Moya-García AA, García-Moreno MI, Rodríguez-Rey JC, Sánchez-Jiménez F, Pocoví M, Ortiz Mellet C, García Fernández JM, Giraldo P. Alfonso P, et al. Chembiochem. 2013 May 27;14(8):943-9. doi: 10.1002/cbic.201200708. Epub 2013 Apr 18. Chembiochem. 2013. PMID: 23606264

2

Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.

Alfonso P, Navascués J, Navarro S, Medina P, Bolado-Carrancio A, Andreu V, Irún P, Rodríguez-Rey JC, Pocoví M, España F, Giraldo P. Alfonso P, et al. Hum Mutat. 2013 Oct;34(10):1396-403. doi: 10.1002/humu.22381. Epub 2013 Aug 13. Hum Mutat. 2013. PMID: 23913449

3

Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients.

Alfonso P, Rodríguez-Rey JC, Gañán A, Pérez-Calvo JI, Giralt M, Giraldo P, Pocoví M. Alfonso P, et al. Blood Cells Mol Dis. 2004 Jan-Feb;32(1):218-25. doi: 10.1016/j.bcmd.2003.10.010. Blood Cells Mol Dis. 2004. PMID: 14757438

4

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. Alfonso P, et al. Blood Cells Mol Dis. 2005 Sep-Oct;35(2):268-76. doi: 10.1016/j.bcmd.2005.05.007. Blood Cells Mol Dis. 2005. PMID: 16039881

5

Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease.

Alfonso P, Pampín S, García-Rodríguez B, Tejedor T, Domínguez C, Rodríguez-Rey JC, Giraldo P, Pocoví M. Alfonso P, et al. Clin Chim Acta. 2011 Jan 30;412(3-4):365-9. doi: 10.1016/j.cca.2010.11.013. Epub 2010 Nov 16. Clin Chim Acta. 2011. PMID: 21087600

6

Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.

Gervas-Arruga J, Cebolla JJ, Irun P, Perez-Lopez J, Plaza L, Roche JC, Capablo JL, Rodriguez-Rey JC, Pocovi M, Giraldo P. Gervas-Arruga J, et al. BMC Genet. 2015 Sep 3;16:109. doi: 10.1186/s12863-015-0267-z. BMC Genet. 2015. PMID: 26334996 Free PMC article.

7

A mutation (-49C>T) in the promoter of the low density lipoprotein receptor gene associated with familial hypercholesterolemia.

Mozas P, Galetto R, Albajar M, Ros E, Pocoví M, Rodríguez-Rey JC. Mozas P, et al. J Lipid Res. 2002 Jan;43(1):13-8. J Lipid Res. 2002. PMID: 11792717 Free article.

8

Functional analysis of new 3' untranslated regions genetic variants in genes associated with genetic hypercholesterolemias.

Pérez-Campo FM, De Castro-Orós I, Noriega A, Cofán M, Lamiquiz-Moneo I, Cenarro A, Ros E, Civeira F, Pocoví M, Rodríguez-Rey JC. Pérez-Campo FM, et al. J Clin Lipidol. 2017 Mar-Apr;11(2):532-542. doi: 10.1016/j.jacl.2017.02.004. Epub 2017 Feb 28. J Clin Lipidol. 2017. PMID: 28502511

9

Induction of insulin-like growth factor receptor (IGF IR) mRNA levels by low density lipoproteins.

Polanco JI, Albajar M, Pocoví M, Rodríguez Rey JC. Polanco JI, et al. Biochem Biophys Res Commun. 1996 Sep 24;226(3):917-22. doi: 10.1006/bbrc.1996.1450. Biochem Biophys Res Commun. 1996. PMID: 8831711

10

Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia.

De Castro-Orós I, Pampín S, Bolado-Carrancio A, De Cubas A, Palacios L, Plana N, Puzo J, Martorell E, Stef M, Masana L, Civeira F, Rodríguez-Rey JC, Pocoví M. De Castro-Orós I, et al. Hum Mutat. 2011 Aug;32(8):868-72. doi: 10.1002/humu.21520. Epub 2011 Jul 12. Hum Mutat. 2011. PMID: 21538688

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

55 results

Search Page

Filters