Departament de Genètica 


Susana Balcells
Neus Cols
Bru Cormand
Roser Gonzàlez
Daniel Grinberg
Gemma Marfany
Lluïsa Vilageliu





Brands MM, Hoogeveen-Westerveld M, Kroos MA, Nobel W, Ruijter GJ, Ozkan L, Plug I, Grinberg D, Vilageliu L, Halley DJ, Ploeg AT, Reuser AJ. Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. Orphanet J Rare Dis. 2013: 8:51.

Mavridou I, Cozar M, Douzgou S, Xaidara A, Lianou D, Vanier MT, Dimitriou E, Grinberg D, Vilageliu L, Michelakakis H. Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island. Clin Genet, May 22, 2013 doi: 10.1111/cge.12200. [Epub ahead of print].

Rodríguez-Pascau L, Toma C, Macías-Vidal J, Cozar M, Cormand B, Lykopoulou L, Coll MJ, Grinberg D, Vilageliu L. Characterization of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients. Mol Genet Metab. 2012; 107:716-720.

Giraldo P, Alfonso P, Irun P, Gort G, Chabás A, Vilageliu L, Grinberg D, Sa Miranda C and Pocovi M. Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula. Orphanet J Rare Dis. 2012; 7:17.

Setó-Salvia N, Pagonabarraga J, Houlden H, Pascual-Sedano B, Dols-Icardo O, Tucci A, Paisán-Ruiz C, Campolongo A, Antón-Aguirre S, Martín I, Muñoz, L, Bufill E, Vilageliu L, Grinberg D, Cozar M, Blesa R, Lleó A, Hardy J, Kulisevsky J and Clarimón J. Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson’s disease course. MovDisord. 2012; 27:393-399.

Rodríguez-Pascau L, Coll MJ, Casas J, Vilageliu L, Grinberg D. Generation of a Human Neuronal Stable Cell Model for Niemann–Pick C Disease by RNA Interference. J Inherit Metabol Dis Reports. 2012; 4:29-37.

Moraitou M, Hadjigeorgiou G, Monopolis I, Dardiotis E, Bozi M, Vassiliatis D, Vilageliu L, Grinberg D, Xiromerisiou G, Stefanis L, Michelakakis H. β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease. Mol Genet Metab. 2011; 104:149-152.

Cozar M, Bembi B, Dominissini S, Zampieri S, Vilageliu L, Grinberg D, Dardis A. Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event. Mol Genet Metab. 2011; 102:226–228.

Canals I, Elalaoui SC, Pineda M, Delgadillo V, Szlago M, Jaouad IC, Sefiani A, Chabás A, Coll MJ, Grinberg D, Vilageliu L. Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. Clin Genet. 2011; 80:367-374.

Macías-Vidal J, Rodríguez-Pascau L, Sánchez-Ollé G, Lluch M, Vilageliu L, Grinberg D, Coll MJ; the Spanish NPC Working Group. Molecular analysis of 30 Niemann-Pick type C patients from Spain. Clin Genet. 2011; 80:39-49.

Pérez B, Rodríguez-Pascau L, Vilageliu L, Grinberg D, Ugarte M, Desviat LR. Present and future of antisense therapy for splicing modulation in inherited metabolic disease. J Inherit Metab Dis. 2010; 33:397-403

Michelakakis H, Dimitriou E, Moraitou M, Valari M, Yatrakou E, Mitsiadi V, Cozar M, Vilageliu L, Grinberg D, Karachristou K. Perinatal lethal form of Gaucher disease. Clinical and molecular characterization of a Greek case. Blood Cells Mol Dis. 2010; 44:82-3.

Rodríguez-Pascau L, Coll MJ, Vilageliu L, Grinberg D. Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease. Hum Mutat. 2009; 30:E993-E1001.

Rodríguez-Pascau L, Gort L, Schuchman EH, Vilageliu L, Grinberg D, Chabás A. Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. Hum Mutat. 2009; 30:1117-22.

Sànchez-Ollé G, Duque J, Egido-Gabás M, Casas J, Lluch M, Chabás A, Grinberg D, Vilageliu L. Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease. Blood Cells Mol Dis. 2009; 42:159-66.

Santamaria R, Vilageliu L, Grinberg D. SR proteins and the nonsense-mediated decay mechanism are involved in human GLB1 gene alternative splicing. BMC Res Notes. 2008; 1:137

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. Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H; H255Q] double mutant allele. Hum Mutat, 29:E58E67, 2008

Garrido E, Cormand B, Hopwood J, Chabás A, Grinberg D, Vilageliu L.
Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphims in the arylsulfatase B gene. Mol. Gen. Metabol., 94: 305-312, 2008

Atrian S, López-Viñas E, Gómez-Puertas P, Chabás A, Vilageliu L, Grinberg D. An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions. Relevance for Gaucher disease. Proteins:structure, Function and Bioinformatics 70:882-891, 2008

Santamaria R, Chabás A, Callahan JW, Grinberg D, Vilageliu L. Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. J Lipid Res 2007;48:2275-2282

Garrido E, Chabás A, Coll MJ, Blanco M, Domínguez C, Grinberg D, Vilageliu L, Cormand B. Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. Mol Genet Metabol 2007;92:122-130

Gort L, Santamaria R, Grinberg D, Vilageliu L, Chabás A. Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis. Clin Genet 2007;72:109-111

Santamaria R, Blanco M, Chabás A, Grinberg D, Vilageliu L. Identification of 14 novel GLB1 mutations, including five deletions, in 19 GM1-gangliosidosis patients from South-America. Clin Genet 2007; 71:273-279

Diaz-Font A, Chabás A, Grinberg D, Vilageliu L. RNAi-mediated inhibition of the glucosylceramide synthase (GCS) gene: a preliminary study towards a therapeutic strategy for Gaucher disease and other glycosphingolipid storage diseases. Blood Cells Mol Dis, 2006; 37:197-203

Santamaria R, Chabás A, Coll M.J, Sa Miranda C, Vilageliu L, Grinberg D. Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among Gypsies. Hum Mutat. 2006; 27:1060 (#922)

Michelakakis H, Moraitou M, Dimitriou E, Santamaria R, Sanchez G, Gort L, Chabás A, Grinberg D, Dassopoulou M, Fotopoulos S, Vilageliu L. Homozigosity for the doble D409H + H255Q allele in type II Guacher disease. J Inher Metab Dis. 2006;29:591 (#011)

Montfort M, Chabás A, Vilageliu L, Grinberg D. Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients. Blood Cells Mol Dis. 2006;36:46-52

Díaz-Font A, Santamaria R, Cozar M, Blanco M, Chamoles N, Coll MJ, Chabás A, Vilageliu L, Grinberg D. Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation. Mol Gen Metabol. 2005;86:206-211

Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaria R, Cidrás M, Grinberg D, Vilageliu L. Perinatal lethal phenotype with generalized ichthyosis ina type 2 Gaucher disease patient with the (L444;E326K)/P182L genotype. Effect of the E326K change in neonatal and classic  forms of the disease. Blood Cells Mol. Dis. 2005;35:253-258

Montfort M, Chabás A, Vilageliu L, Grinberg D. A response to Kowarz et al.: Gaucher mutation c.680A>G (p.N227S) is associated with myoclonic epilepsy. Hum Mutat. 2005;26:274-275

Díaz-Font A, Cormand B, Santamaria R, Vilageliu L, Grinberg D, Chabás A. A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity. Hum Genet. 2005; 117:275-277

Montfort M, Garrido E, Hopwood J.J, Grinberg D, Chabás A, Vilageliu L. Expression and functional characterization of human sulfamidase in insect cells. Mol Genet Metabol. 2004;83:246-251

Montfort M, Chabás A, Vilageliu L, Grinberg D. Functional analysis of 13 mutant alleles identified in Gaucher disease patients: pathogenic changes and 'modifiers' polymorphisms. Hum Mutat. 2004;23:567-575

Díaz-Font A, Cormand B, Chabas A, Vilageliu L, Grinberg D. Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease. Blood Cells Mol Dis. 2003;31:183-186

Díaz-Font A, Cormand B, Blanco M, Chamoles N, Chabás A, Grinberg D, Vilageliu L. Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients. Hum Genet. 2003;112:426-429

Paloma E, Coco R, Martínez-Mir A, Vilageliu L, Balcells S, Gonzàlez-Duarte R. Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies. Hum Mut. 2002;20:476

Paloma E, Martínez-Mir A, García-Sandoval B, Ayuso C, Vilageliu L, Gonzàlez-Duarte R, Balcells S. Novel homozygous mutation in the alpha subunit of the rod cGMP channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa. J Med Genet. 2002;39:e66

Rodríguez-Marí A, Díaz-Font A, Chabás A, Pastores G.M, Grinberg D, Vilageliu L. New insights into the origin of the Gaucher disease causing mutation N370S: extended haplotype analysis using the 5GC3.2 5470 G/A and the ITG6.2 polymorphisms. Blood Cells, Mol Dis. 2001;27:950-959

Paloma E, Martínez-Mir A, Vilageliu LL, Gonzàlez-Duarte R, Balcells S. Spectrum of ABCA4 (ABCR) mutations in Spanish patients with autosomal recessive macular dystrophies. Hum Mut. 2001;17:504-510

Chabás A, Montfort M, Martinez-Campos M, Diaz A, Coll M.J, Grinberg D, Vilageliu L. Mutation and haplotype analyses in 26 Spanish Sanfilippo Syndrome type A patients: possible single origin for 1096delC mutation. Am J Med Genet. 2001;100:223-228

Cormand B, Díaz A , Grinberg D, Chabás A, Vilageliu L. A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease. Blood Cells, Mol Dis. 2000;26:409-416

Díaz A, Montfort M, Cormand B, Zeng B,Pastores GM, Chabás A, Vilageliu L, Grinberg D. On the Age of the Most Prevalent Gaucher Disease-Causing Mutation, N370S. Am J Hum Genet. 2000;66:2014-2015

Díaz A, Montfort M, Cormand B, Zeng B,Pastores GM, Chabás A, Vilageliu L, Grinberg D. Gaucher disease: The N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousands of years ago. Am J Hum Genet. 1999;64:1233-1238

Cormand B, Harboe TL, Chamoles N, Gort L, Chabás A, Vilageliu L, Grinberg D. Mutation Analysis in Gaucher Disease Patients from Argentina: High prevalence of the RecNciI Mutation. Am J Med Genet. 1998;80:343-351

Montfort M, Vilageliu L, García-Giralt N, Guidi S, Coll MJ, Chabás A, Grinberg D. Mutation 1091 is highly prevation in Spanish Sanfilippo syndrome type A patients. Hum Mutat. 1998;12:274-279

Chabás A, Gort L, Montfort M, Castelló F, Domínguez MC, Grinberg D, Vilageliu L. Recurrence of the D409H mutation in Spanish Gaucher's patients: description of a new homozygous patient and haplotype analysis. J Med Genet. 1998;35:775-777

Cormand B, Grinberg D, Gort L, Chabás A, Vilageliu L. Molecular Analysis and Clinical Findings in the Spanish Gaucher Disease Population. Putative Haplotype of the N370S Ancestral Chromosome. Hum Mutat. 1998;11:295-305

Cormand B, Montfort M, Chabás A, Grinberg D, Vilageliu L. Reliable Cosegregation Analysis for Prenatal Diagnosis and Heterozygous Detection in Gaucher Disease. Prenatal Diag. 1998;18:207-212

Bayés M, Goldaracena B, Martínez-Mir A, Iragui-Madoz M.I, Solans T, Chivelet P, Bussaglia E. Ramos-Arroyo M.A, Baiget M, VilageliuLl, Balcells S, Gonzàlez-Duarte R, Grinberg D. A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. J Med Genet. 1998;35:141-145

Martínez-Mir A, Paloma E, Allikmets R, Ayuso C, del Rio T, Dean M, Vilageliu LL, Gonzàlez-Duarte  R, Balcells S. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nature genet.1998;18:11-12

Cormand B, Montfort M, Chabás A, Vilageliu L, Grinberg D. Genetic Fine Localization of the b-glucocerebrosidase (GBA) and Prosaposin (PSAP) Genes: Implications for Gaucher Disease. Hum Genet. 1997;100:75-79

Martínez-Mir A, Viela C, Bayés M, Valverde D, Dain L, Beneyto M, Marco M, Baiget M, Grinberg D, Balcells S,  Gonzàlez-Duarte R,. Vilageliu L. Putative association of a mutant ROM1 allele with retinitis pigmentosa. Hum Genet 1997;99:827-830 

Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabás A. Two New Mild Homozygous Mutations in Gaucher's Disease Patients. Clinical Signs and Biochemical Analyses. Am J Med Genet. 1997;70:437-443

Martínez-Mir A, Bayés M, Vilageliu Ll, Grinberg D, Ayuso C, Del Río T, García-Sandoval T, Bussaglia E, Baiget M, Gonzàlez-Duarte R, Balcells S. A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. Genomics. 1997; 40:142-146

Bayés M, Martínez-Mir A, Valverde D, Del Río E, Vilageliu Ll, Grinberg D, Balcells S, Ayuso C, Baiget M, Gonzàlez-Duarte R. Autosomal recessive retinitis pigmentosa in Spain: evaluation of 4 genes and 2 loci involved in the disease. Clin Genet. 1996;50:380-387

Chabás A, Cormand B, Balcells S, González-Duarte R, Casanova C, Colomer J, Vilageliu L, Grinberg D. Neuronopathic and Nonneuronopathic Presentation of Gaucher’s Disease in Patients with the Third Most Common Mutation (D409H) in Spain. J Inher Metab Dis. 1996;19:798-800

Valverde D, Solans T, Grinberg G. Balcells S, Vilageliu L, BayésM, Chivelet M, Besmond C, Goossens M, Gonzàlez-Duarte R, Baiget M. A novel mutation in exon 17 of the b-subunit of rod phosphodiesterase in two RP sisters of a consaguineous family. Hum Genet. 1996; 97: 35-38

Cormand B, Vilageliu L, Balcells S, González-Duarte R, Chabás A, Grinberg D. Two Novel (1098insA and Y313H) and One Rare (R359Q) Mutations Detected in Exon 8 of the b-Glucocerebrosidase Gene in Gaucher's Disease Patients. Hum Mutat. 1996;7:272-274

Chabás A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, González-Duarte R, Vilageliu L. Unusual Expression of Gaucher's Disease: Cardiovascular Calcifications in Three Siblings Homozygous for the D409H Mutation. J Med Genet. 1995;32:740-742

Bayés M, Valverde D, Balcells S, Grinberg D, Vilageliu L, Benítez J, Ayuso C, Beneyto M, Baiget M, Gonzàlez-Duarte R. Evidence against involvement of recoverin in autosomal recessive Retinitis Pigmentosa in 42 Spanish families. Hum Genet. 1995; 96: 89-94

Cormand B, Vilageliu L, Burguera JM, Balcells S, González-Duarte R, Grinberg D, Chabás A. Gaucher Disease in Spanish Patients: Analysis of Eight Mutations. Hum Mutat. 1995;5:303-309

Bayés M, Giordano M, Balcells S, Grinberg D, Vilageliu L, Martínez I, Ayuso C, Benítez J, Ramos-Arroyo M.A, Chivelet P, Solans T, Valverde D, Amselem S, Goosens M, Baiget M. Gonzàlez-Duarte R. & Besmond C. Homozygous tandem duplication within the gene encoding the b-subunit of rod phosphodiesterase as a cause for autosomal recessive Retinitis Pigmentosa. Hum Mutat. 1995;5:228-234

Valverde D, Bayés M, Martínez I, Grinberg D, Vilageliu Ll, Balcells S, González-Duarte R, Baiget M. Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172. Hum Genet. 1994;94:193-194

Chabás A, Castellvi S, Bayés M, Balcells S, Grinberg D, Vilageliu Ll, Marfany G, Lissens W, Gonzàlez-Duarte R. Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population. Clin Genet. 1993;44:320-323

Dunford R, Vilageliu Ll, Moore G. Stabilisation of a yeast artificial choromosome containing plant DNA using a recombination-deficient host. Plant Mol Biol 1993;1187-1189

Cobo A, Grinberg D, Balcells S, Vilageliu Ll, González-Duarte R, Baiget M. Linkage desequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population. Hum Genet 1992;89:287-291

Visa N, Marfany G, Vilageliu L, Albalat R, Atrián S, González-Duarte R. The Adh in Drosophila: Chromosomal location and restriction analysis in species with different phylogenetic relationships. Chromosoma 1991;100:315-322

Hernández J, Vilageliu Ll, González-Duarte R. Functional and biochemical features  of ADH in four species of the obscura group of Drosophila. Genetica 1988;77:15-24

González-Duarte R, Atrián S, Vilageliu Ll, Fibla J. On the origin, function ansd expression of Drosophila alcohol deshydrogenase. Genet Iber.1987; 39:351-363

González-Duarte R,. Vilageliu Ll, Metabolic response to ethanol and isopropanol in D.funebris  and D.immigrans. Comp Biochem Physiol. 1985;80C:189-193  

Vilageliu Ll, González-Duarte R. Alcohol dehydrogenase from D.funebris and D.immigrans: molecular and evolutionary aspects. Biochem Genet. 1984;22:797-815 

Vilageliu Ll, González-Duarte R. Effect of the ethanol and isopropanol on the activity of alcohol dehydrogenase, viability and life-span in D.melanogaster and D.funebris. Experientia 1980;36:828-829

Capítols de llibre

Grinberg D, Chabás A, Cormand B, Gort L, Montfort M, Díaz-Font A, Vilageliu L. Molecular basis of Gaucher disease. In: Recent Research Developments in Human Genetics. S.G. Pandalai (ed.). Research Singpost vol. I part I: 223-235, 2002

Chabás A, Vilageliu L, Grinberg D. Gaucher disease: a lysosomal disorder. In: Lectures in molecular Pathologhy. Sastre, F.; Guinovart, J. (eds.). Springer Verlag. 367-405, 2000

Martínez-Mir A, Paloma E, Balcells S, Vilageliu LL, Pittler SJ, Gonàlez-Duarte R. Genetic mapping and evaluation of PDE6A in 49 Spanish families with autosomal recessive retinitis pigmentosa. In "Retinal Degenerative Diseases and Experimental Therapy". J.G. Hollyfield, R.E. Anderson & M.M. LaVail (eds.) Kluwer Academic/Plenum Publishers, New York, 1999

Gonzàlez-Duarte R, Bayés M, Martínez-Mir A, Valverde D, Beneyto M, Balcells S, Baiget, Vilageliu L, Grinberg, D. Strategies for the genetic analysis od autosomal recessive retinitis pigmentosa in Spanish families. In: Degenerative Retinal Diseases. M.M. LaVail, J.G. Hollyfield & R.E. Anderson eds.). Plenum Publishing Corp. New York, vol 29: 236-275, 1997

Vilageliu Ll, Tyler-Smith C. Structural instability of YAC clones and the use of recombinant–deficient yeast host strains. In: Tecniques for the analysis of complex genomes. Academic Press Limited. 93-112, 1992

Vilageliu L, Juan E, Gonzàlez-Duarte R. Determination of some biochemical and structural features  of alcoholdehydrogenase from Drosophila melanogaster, D. simulans, D. virilis, D.funebris, D. immigrans and D. lebanonensis. Comparison of their properties and estimation of the homology of the ADH enzyme of different species. In: Genetics, Development and Evolution of Drosophila. Plenum Publishing Corp. New York, 237-250, 1982