Departament de Genètica 


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





GARANTO, A.; VICENTE-TEJEDOR, J; RIERA, M.; DE LA VILLA, P.; GONZÀLEZ -DUARTE, R.; BLANCO, R. & MARFANY, G. Targeted knockdown of CERKL, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer. Biochimica et Biophysica Acta-Molecular Basis of Disease 1822 (2012): 1258-1269

BLOUNT, J.R.; BURR, A.A.; DENUC, A.; MARFANY, G.; TODI, S.V. Ubiquitin-specific protease USP25 functions in endoplasmic reticulum-associated degradation. PLoS One 7 (2012): e36542.

IRIMIA, M.; DENUC, A.; FERRAN, J.L.; PERNAUTE, B.; PUELLES, L.; ROY, S.W.; GARCIA-FERNÀNDEZ, J.; MARFANY, G. Evolutionarily conserved A-to-I editing increases protein stability of the alternative splicing factor Nova 1. RNA Biology 9 (2012) :1-10.

POMARES, E.; MARFANY, G.; GONZÀLEZ-DUARTE, R. High-throughput approaches for the genetic diagnosis of retinal dystrophies. Advances in Experimental Medicine and Biology 723 (2012):329-35.

GARANTO, A.; RIERA, M.; POMARES, E.; PERMANYER, J.; DE CASTRO-MIRÓ, M.; SAVA, F.; ABRIL, J. F.; MARFANY, G. & Gonzàlez -Duarte, R. High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse. Investigative Ophthalmology and Visual Sciences 52:5202-14, 2011

IRIMIA, M.; DENUC, A.; BURGUERA, D.; SOMORJAI, I.; Martin-duran, J.; GENIKHOVICH, G.; JIMENEZ-DELGADO, S.; TECHNAU, U.; ROY, S.; MARFANY, G. & GARCIA-FERNÀNDEZ, J. Stepwise Assembly of the Nova-regulated Alternative Splicing Network in the Vertebrate Brain. Proceedings of the National Academy of Sciences USA 108:5319-24, 2011

DENUC, A. & MARFANY, G. SUMO and ubiquitin paths converge. Biochemical Society Transactions 38:34-39, 2010

CROSAS, B.; Farràs, R.; MARFANY, G., Rodríguez, M. & THOMSON, T. M. Searching for the boundaries: unlimited expansion of ubiquitin and ubiquitin-like signals in multiple cellular functions. Biochemical Society Transactions 38:1-5, 2010

PERMANYER, J.; NAVARRO, R.; FRIEDMAN, J.S.; POMARES, E.; CASTRO-NAVARRO, J.; MARFANY, G.; SWAROOP, A. & Gonzàlez-Duarte, R. A novel mutation in PROM1 that results in nonsense mediated decay causes autosomal recessive Retinitis Pigmentosa. Investigative Ophthalmology and Visual Sciences 51: 2656-2663, 2010

POMARES, E.; RIERA, M.; PERMANYER, J.; MENDEZ, P.; CASTRO-NAVARRO, J.; ANDRES-GUTIERREZ, A.; MARFANY, G. & Gonzàlez-Duarte, R. Comprehensive SNP-chip for Retinitis Pigmentosa-Leber Congenital Amaurosis diagnosis: new mutations and detection of mutational founder effects. European Journal of Human Genetics 18:118-124, 2010

POMARES, E.; RIERA, M.; CASTRO-NAVARRO, J.; ANDRES-GUTIERREZ, A.; GONZÀLEZ-DUARTE, R. & MARFANY G. Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa. Investigative Ophthalmology and Visual Sciences 50:5107-5114, 2009

DENUC, A.; BOSCH-COMAS, A.; GONZÀLEZ-DUARTE, R. & MARFANY G. The UBA-UIM domains of USP25 regulate the enzyme ubiquitination state and modulate substrate recognition. Plos ONE 4: e5571, 2009

TUSÓN M., GARANTO, A., GONZÀLEZ-DUARTE, R. & MARFANY G. Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress. Mol Vis. 15:168-80, 2009

BREA-FERNÁNDEZ, A. J.; POMARES, E.; BRIÓN, M. J.; MARFANY, G.; BLANCO, M. J.; SÁNCHEZ-SALORIO, M.; Gonzàlez-Duarte, R. & CARRACEDO, A. Novel splice donor site mutation in MERTK gene associated with retinitis with retinitis pigmentosa. British Journal of Ophthalmology 92: 1419-1423, 2008

MARFANY, G. & DENUC, A. To ubiquitinate or to deubiquitinate: it all depends on the partners. Biochemical Transactions 36: 833-838, 2008

MARFANY, G., FARRAS, R., SALIDO, E., XIRODIMAS, D.P. & RODRÍGUEZ, M. Much to know about proteolysis: intrincate proteolytic machineries compromise essential cellular functions. Biochemical Transactions 36: 781-785, 2008

ROSANAS-URGELL, A., GARCIA-FERNANDEZ, J. & MARFANY, G. ParaHox genes in pancreatic cell cultures: effects on the insulin promoter regulation. Int J Biol. Sci, 4: 48-57, 2008

POMARES, E.; MarfaNY, G.; BRIÓN, Mª J.; CARRACEDO, A. & Gonzàlez-Duarte, R. Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive Retinitis Pigmentosa and Leber Congenital Amaurosis. Human Mutation 28 (5): 511-516, 2007

BAGIYEVA, S.; MarfaNY, G.; GONZÀLEZ-ANGULO O. & Gonzàlez-Duarte, R. Mutational screening of CYP1B1 in Turkish PCG families and functional analysis of newly detected mutations. Molecular Vision 13: 1458-1468, 2007

BOSCH-COMAS, A.; LINDSTEN K.; GONZALEZ-DUARTE, R.; MASUCCI, M.G. & MARFANY, G. The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins. Cellular and Molecular Life Sciences 63 (7): 723-734, 2006

ROSANAS-URGELL, A.; MARFANY, G. & GARCIA-FERNANDEZ, J. Pdx1-related homeodomain transcription factors are distinctly expressed in mouse adult pancreatic islets.Journal of Molecular Endocrinology, 237 (1-2):59-66, 2005

CERVANTES, S.; SAURA, C.A.; POMARES, E.; GONZÀLEZ-DUARTE, R. & MARFANY, G. Functional implications of the presenilin dimerization: reconstitution of gamma-secretase activity by assembly of a catalytic site at the dimer interface of two catalytically inactive presenilins.  Journal of Biological Chemistry, 279 (35): 36519-29, 2004.

TUSÓN, M.; MARFANY, G. & GONZÀLEZ-DUARTE, R. Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). American Journal of Human Genetics 74 (1): 128-138 (2004)

SÁNCHEZ-FONT, M.F.; SEBASTIÀ, J.; SANFELIU, C.; CRISTÒFOL, R.; MARFANY, G. & GONZALEZ-DUARTE, R. Peroxiredoxin 2 (PRDX2), an antioxidant enzyme, is subexpressed in Down syndrome (DS) fetal brains and could contribute to DS-associated neuronal phenotype. Cellular and Molecular Life Sciences 60 (7): 1513-23 (2003)

SÁNCHEZ-FONT, M.F.; BOSCH, A.; GONZÀLEZ-DUARTE, R. & MARFANY, G. Overexpression of FABP7 in Down syndrome fetal brains is related to PKNOX1 gene-dosage imbalance. Nucleic Acid Research 31 (11): 2769-77 (2003).

HJELMQVIST, L.; TUSÓN, M.; MARFANY, G.; HERRERO, E., BALCELLLS; S. & GONZÀLEZ-DUARTE, R. ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins.Genome Biology 3 (6): research0027 (2002)  

VALERO, R.; BAYÉS, M.; SÁNCHEZ-FONT, Mª.F.; GONZÁLEZ-ANGULO, O., GONZÀLEZ-DUARTE, R. & MARFANY, G. Characterization of human USP28, a novel deubiquitinating enzyme closely related to USP25, and its alternatively spliced products. Genome Biology 2 (10): research0043.1-0043.10 (2001)

CERVANTES, S, GONZÀLEZ-DUARTE, R. & MARFANY, G. Homodimerization of presenilin N-terminal fragments is affected by mutations linked to Alzheimer's disease. FEBS Lett. 505 (1): 81-6, 2001.

TO-FFIGUERAS, J.; GENÉ, M., GÓMEZ-CATALÁN, ; PIQUÉ, E.; BORREGO, N.; MARFANY, G.; GONZÀLEZ-DUARTE, R. & CORBELLA, J. Polymorphism of glutathione S-transferase M3: Interaction with glutathione S-transferase M1 and lung cancer susceptibility.Biomarkers 5 (1): 73-80 (2000)

VALERO, R.; MARFANY, G.; GONZÁLEZ-ANGULO, O.; GONZÁLEZ, G.; PUELLES, L. & GONZÀLEZ-DUARTE, R. USP25, a new gene encoding a deubiquitinating enzyme, is located in the gene-poor region 21q11.2. Genomics 62 (3): 395-405 (1999)

VALERO, R.; MARFANY, G.; GIL, R.; IBÁÑEZ, A.; LÓPEZ-PAJARES, I.; PRIETO, F.; RUL·LAN, G.; SARRET, E. & GONZÀLEZ-DUARTE, R. Molecular characterization of partial chromosome 21 aneuploidies by fluorescent PCRJournal of Medical Genetics 36 (9): 694-699 (1999)

VIVAS, Mª. V.; GAARCIA-PLANELLS, J.; RUIZ, C.; MARFANY, G.; PARICIO, N.; GONZÀLEZ-DUARTE, R. & DE FRUTOS, R. GEM, a cluster of repetitive sequences from the Drosophila subobscura genome. Gene 229(1-2): 47- 57, (1999)

LUQUE, T.; HJELMQVIST, L.; MARFANY, G.; DANIELSSON, O.; PERSSON, B.; EL-AHMAD M.; JÖRNVALL, H. & GONZÀLEZ-DUARTE, R. Sorbitol dehydrogenase inDrosophila: Gene, protein and expression data show a two-gene enzyme system. Journal of Biological Chemistry 273:  34413-34421, (1998)

MARFANY, G.; DEL-FAVERO, J.; VALERO, R.; DE JONGHE, C.; WOODROW, L.; HENDRIKS, L.; VAN BROECKHOVEN, C. & GONZÀLEZ-DUARTE, R. Identification of a Drosophila presenilin homologue. Evidence of alternatively spliced forms.Journal of Neurogenetics 12:  45- 54, (1997)

LUQUE, T.; MARFANY, G. & GONZÀLEZ-DUARTE, R. Characterization and molecular analysis of Adh retrosequences in species of the Drosophila obscura group. Molecular Biology and Evolution 14(12): 1316-1325, (1997)

COLLET, J.; GARCIA-FERNÀNDEZ, J. & MARFANY, G. Plasmid DNA small-scale preparation based on nuclease inactivation by diethylpyrocarbonateElsevier Trends Journals Technical Tips on line (17/9/97) T01207, (1997)

MARTÍN-RENDÓN. E.; HURD, D. W.; MARFANY, G.; KINGSMAN, S. M. & KINGSMAN, A. J. Identification of proteolytic cleavages sites within the gag-analogue protein of Ty1 virus-like particles. Molecular Microbiology 22(5): 1035-1043, (1996)

MARTÍN-RENDÓN. E.; MARFANY, G.; WILSON, S.; FERGUSON, D. J. P.; KINGSMAN, S. M. & KINGSMAN, A. J. Structural determinants within the subunit protein of Ty1 virus-like particles.Molecular Microbiology 22(4): 667- 679, (1996)

GARCIA-FERNÀNDEZ, J.; BAYASCAS-RAMÍREZ, J. R.; MARFANY, G.; MUÑOZ-MÁRMOL, A. M.; CASALÍ, A.; BAGUÑÀ, J.; SALÓ, E. High copy number of highly similar mariner-like transposons in planarian (Platyhelminthe): evidence for a trans-phyla horizontal transfer.Molecular Biology and Evolution 12(3): 421-431, (1995)

ALBALAT, R.; MARFANY, G.; GONZÀLEZ-DUARTE, R. Analysis of Drosophila alcohol dehydrogenase.Genetica 94: 27-36, (1994)

CHABÀS, A.; CASTELLVÍ, 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. Clinical Genetics 44:  320- 323, (1993)

GARCIA-FERNÀNDEZ, J.; MARFANY, G.; BAGUÑÀ, J. & SOLÓ E. Infiltration of mariner elements. Nature 364: 109-110, (1993)

MARFANY, G. & GONZÀLEZ-DUARTE, R. Characterization and evolution of the Adh genomic region in Drosophila guanche and Drosophila madeirensis.Molecular Phylogenetics and Evolution 2(1): 13-22, (1993)

COLS, N.; MARFANY, G. ; ATRIAN, S. & GONZÀLEZ-DUARTE, R. Effects of site-directed mutagenesis on conserved positions of Drosophila alcohol dehydrogenase.FEBS Letters 319 (1,2): 90-94, (1993)

ATRIAN, S.; MARFANY, G. ; ALBALAT, R. & GONZÀLEZ-DUARTE, R. Primary structure analysis of Drosophila alcohol dehydrogenase.Biochemical Genetics (Life Science Advances) 11: 19-29, (1992)

MARFANY, G. & GONZÀLEZ-DUARTE, R. Evidence for retrotranscription of protein-coding genes in theDrosophila subobscura genome. Journal of Molecular Evolution 35: 492-501, (1992)

MARFANY, G. & GONZÀLEZ-DUARTE, R. TheDrosophila subobscura Adh genomic region contains valuable evolutionary markers.Molecular Biology and Evolution 9(2): 261-277, (1992)

MARFANY, G. & GONZÀLEZ-DUARTE, R. The Adh genomic region of Drosophila ambigua: evolutionary trends in different species.Journal of Molecular Evolution 32: 454- 462, (1991)

VISA, N.; MARFANY, G. ; VILAGELIU, L.; ALBALAT, R.; ATRIAN, S. & GONZÀLEZ-DUARTE, R. The Adh in Drosophila: Chromosomal location and restriction analysis in species with different phylogenetic relationships. Chromosoma 100: 315-322, (1991)

Llibres i capítols de llibre

MARFANY, G.; SOLEY, M. ¿Por qué envejecemos?. Libro (324 pp) (España): Edicions Universitat de Barcelona (UBe) / Ominscellula, 2013. ISBN 978-84-475-3641-2

MARFANY, G. USP25. Handbook of proteolytic enzymes, 3rd ed (editors Rawlins & Salvensen) ELSEVIER, Academic Press 2012 (ISBN-978012382219)

MARFANY, G. Tests genéticos y protección de datos personales. Buisán, L.; Sánchez Urrutia, A., Intimidad, confidencialidad y protección de datos de salud (Capítulo 6), pag. 119-127. Cívitas-Thomson (2011)

Ha contribuït a definir aproximadament 100 termes a:
Nucleic Acids from A to Z. A concise Encyclopedia. 1st Edition (April 2008)
Sabine Müller (Ed). Wiley-VCH. Weinheim 2008. ISBN 978-3-527-31211-5

Per què envellim? La resposta de la ciència a una vella pregunta humana. GEMMA MARFANY and MARIA SOLEY. Col·lecció Catàlisi. Publicacions i Edicions Universitat de Barcelona (2011)

El efecto CSI. La genética forense en el s.XXI. GEMMA MARFANY. Colección Hyperion 5. Edicions UPC (Iniciativa Digital Politècnica) (2010).

GONZÀLEZ-DUARTE, R.; TUSÓN, M. & MARFANY, G. Ceramide, ceramide kinase and vision defects: a BLIND spot for LIPIDS. In Sphingolipid Biology, Hirabayashi, Y.; Igarashi, Y & Merrill, Jr. AH (eds), pp337-344, Springer-Verlag Tokyo, 2006

MARFANY, G.; EGOZCUE. J. & CAMPS, V. Clonación terapéutica: perspectivas científicas, éticas y legales. Fundació Víctor Grifols i Lucas, 2005

ATRIAN, S.; ALBALAT, R.; COLS, N.; MARFANY, G.; VALLS, M.; GONZÀLEZ-DUARTE, R. Picturing Drosophila alcohol dehydrogenase by site-directed- mutagenesis.Perspectives on Protein Engineering and related technologies, 1995

KINGSMAN, A. J.; ADAMS, S. E.; BURNS, N. R.; MARTÍN-RENDÓN. E.; MARFANY, G.; HURD, D. W. & KINGSMAN, S. M. Virus-like particles: Ty retrotransposons.Molecular Genetics of Yeast: A Practical Approach. IRL Press, pp: 203-215, (1994)