Publicaciones
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Canals I, Beneto N, Cozar M, Vilageliu L and Grinberg-Vaisman DR.
EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome.
SCIENTIFIC REPORTS . 5: 13654-13654. Nº de citas: 20
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Gómez-Grau M, Garrido E, Cozar M, Rodriguez-Sureda V, Domínguez C, Arenas C, Gatti RA, Cormand B, Grinberg-Vaisman DR and Vilageliu L.
Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.
PLoS One . 10(8): . Nº de citas: 28
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Rodríguez-Sanz M, García-Giralt N, Prieto-Alhambra D, Servitja S, Balcells S, Pecorelli R, Díez-Pérez A, Grinberg-Vaisman DR, Tusquets I and Nogués X.
CYP11A1 expression in bone is associated with aromatase inhibitor-related bone loss.
J MOL ENDOCRINOL . 55(1): 69-79. Nº de citas: 22
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Dimitriou E, Cozar M, Mavridou I, Grinberg-Vaisman DR, Vilageliu L and Michelakakis H.
The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.
JIMD Reports . 25: 57-64. Nº de citas: 3
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Carcavilla A, García-Miñaúr S, Pérez-Aytés A, Vendrell T, Pinto I, Guillén-Navarro E, González-Meneses A, Aoki Y, Grinberg-Vaisman DR and Ezquieta B.
Síndrome cardiofaciocutáneo, un trastorno relacionado con el síndrome de Noonan: hallazgos clínicos y moleculares en 11 pacientes.
MEDICINA CLINICA . 144(2): 67-72. Nº de citas: 2
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Matos L, Canals I, Dridi L, Choi Y, Prata MJ, Jordan P, Desviat LR, Pérez-Dueñas B, Pshezhetsky AV, Grinberg-Vaisman DR, Alves S and Vilageliu L.
Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations
ORPHANET JOURNAL OF RARE DISEASES . 9: 180-180. Nº de citas: 35
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Delgado MA, Martinez-Domenech G, Sarrión P, Urreizti R, Zecchini L, Robledo HH, Segura F, de Kremer RD, Balcells S, Grinberg-Vaisman DR and Asteggiano CG.
A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.
SCIENTIFIC REPORTS . 4: 6407-6407. Nº de citas: 14
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Serra-Vinardell J, Díaz L, Guitiérrez-de Terán H, Sánchez-Ollé G, Bujons J, Michelakakis H, Mavridou I, Aerts JM, Delgado A, Grinberg-Vaisman DR, Vilageliu L and Casas J.
Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY . 54: 245-254. Nº de citas: 8
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Serra-Vinardell J, Díaz L, Casas J, Grinberg-Vaisman DR, Vilageliu L, Michelakakis H, Mavridou I, Aerts JM, Decroocq C, Compain P and Delgado A.
Glucocerebrosidase enhancers for selected Gaucher disease genotypes by modification of a-1-C-substituted imino-D-xylitols (DIXs) by click chemistry.
Chemmedchem . 9(8): 1744-1754. Nº de citas: 15
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Reverter M, Rentero C, Garcia-Melero A, Hoque M, Vilà de Muga S, Alvarez-Guaita A, Conway JR, Wood P, Cairns R, Lykopoulou L, Grinberg-Vaisman DR, Vilageliu L, Bosch M, Heeren J, Blasi J, Timpson P, Pol A, Tebar F, Murray RZ, Grewal T and Enrich C.
Cholesterol regulates Syntaxin 6 trafficking at trans-Golgi network endosomal boundaries.
CELL REPORTS . 7(3): 883-897. Nº de citas: 84