Articles

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, Gonzàlez-Duarte R. Nucleic Acids from A to Z. A concise Encyclopedia. Sabine Müller (Ed), contribution of in defining approximately 100 terms. Wiley-VCH. Weinheim 2008. ISBN 978-3-527-31211-5

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)