Departament de Genètica 


GENETICA MOLECULAR
 HUMANA


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

GEMMA MARFANY


contacte
historial
recerca
publicacions


SELECCIÓ DE PUBLICACIONS



Articles

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)