Articles

PERRAULT I., ESTRADA-CUZCANO A., LOPEZ I., KOHL S., LI S., TESTA F., ZEKVELD R., POMARES E., ABOUSSAIR N., BANFI S., DELPHIN N., DEN HOLLANDER A., EDELSON C., FLORIJN R., JEANPIERRE M., LEOWSKI C., MEGARBANE A., MUNNICH A., REN H., BERGEN A., CHEN R., CREMERS F., GONZALEZ-DUARTE R., KOENEKOOP R., SIMONELLI F., WISSINGER B., ZHANG Q., KAPLAN J & ROZET JM. Update on RD3 Mutations in LCA (en revisió)

POMARES E., BURÉS-JELSTRUP A., RUIZ-NOGALES S., CORCÓSTEGUI B., GONZÁLEZ-DUARTE R. & NAVARRO R. Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families. Invest. Ophth. Vis. Sci. (en revisió)

GARANTO A., RIERA M., POMARES E., PERMANYER J., DE CASTRO-MIRÓ M., SAVA F., ABRIL J., MARFANY G. & GONZÁLEZ-DUARTE, R. High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse Invest. Ophth. Vis. Sci. 52: 5202-5214, 2011

POMARES E., MARFANY G. & GONZÁLEZ-DUARTE R. High-throughput approaches for the genetic diagnosis of retinal dystrophies. Adv. Exp. Med. Biol. 723, Chapter 43, 2011

PERMANYER, J.; NAVARRO, R.; FRIEDMAN, J.; POMARES, E.; CASTRO-NAVARRO, J.; MARFANY, G.; SWAROOP, A. & GONZÀLEZ-DUARTE, R. Autosomal recessive Retinitis Pigmentosa with early macular affectation caused by premature truncation in PROM1. Investigative Ophthalmology & Visual Science 51(5):2656-63, 2010

POMARES, E.; RIERA, M.; PERMANYER, J.; MENDEZ, P.; CASTRO-NAVARRO, J.; ANDRÉS-GUTIÉRREZ, 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 (1): 118-24, 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

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

Godoy L, Gonzàlez-Duarte R, Albalat R. Planarian ADH3 supports the features of the ancestor of the MDR-ADH family. Comparative Biochemistry and Physiology Part B. 146:489-495, 2007

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

PERMANYER J., ALBALAT R. & GONZÀLEZ-DUARTE R. Getting closer to a pre-vertebrate genome: the non-LTR retrotransposons of Branchiostoma floridae. International Journal of Biological Sciences 2: 48-53, 2006

GODOY L., GONZÀLEZ-DUARTE R. & ALBALAT R. S-nitrosogluthathione reductase activity of amphioxus ADH3: insights into the nitric oxide metabolism. International Journal of Biological Sciences 2: 117-124, 2006

CAÑESTRO C., POSTLETHWAIT J., GONZÀLEZ-DUARTE R. & ALBALAT A. Retinoic acid genetic machinery predates the origin of chordates. Evolution and Development 8: 394-406, 2006

BENACH J., WINBERG JO., SVENDSEN JS., ATRIAN S., GONZÀLEZ-DUARTE R. & LADENSTEIN R. Drosophila Alcohol Dehydrogenase: Acetate-enzyme interactions and novel insights into the effects of electrostatics on catalysis. J. Mol. Biol. 345: 579–598, 2005

GONZÀLEZ-DUARTE R. & ALBALAT R. Merging protein, gene and genomic data: The evolution of the MDR-ADH family. Heredity 95: 184-197, 2005 (revisió)

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

Sánchez-Font, F., SEBASTIÀ J., SANFELIU C., CRISTÒFOL R., Marfany G. & Gonzàlez-Duarte R.  Peroxiredoxin 2 (PRDX2), an antioxidant enzyme, is under-expressed in Down Syndrome fetal brains. Cellular and Molecular Life Sciences 60: 1513-1523, (2003)

Sánchez-Font Mª F., BOSCH-COMAS A., Gonzàlez-Duarte R. & Marfany G. Overexpression of FABP7 in Down Syndrome fetal brains is caused by PKNOX1 gene-dosage imbalance. Nucleic Acids Research 31: 2769-2777, (2003)

Albalat R., Permanyer j., Martínez-Mir A., González-Angulo O.& GONZALEZ-DUARTE R. The first retrotransposon of the non-LTR class from the cephalochordate amphioxus, BfCR1, shows similarities to the CR1-like elements. Cellular and Molecular Life Sciences 60: 803-809, (2003)

PERMANYER J., Gonzàlez-Duarte R. &ALBALAT R. The non-LTR retrotransposons in Ciona intestinalis. New insights into the evoluion of chordate genomes. enome Biology 4: R73,  (2003)

DALFÓ D., Albalat R., MolotkoV A., Duester G.& GONZALEZ-DUARTE R. etinoic acid synthesis in the prevertebrate amphioxus involves retinol oxidation. Development, Genes and Evolution 212: 388-393, (2002)

Paloma E., Coco R., Martínez-Mir A., Vilageliu LL., Balcells S. & Gonzàlez- Duarte R.Mutation and haplotype analysis of ABCA4 in mixed Spanish families and implication of this gene in a pattern dystrophy phenotype. Human Mutation 20: 476-484, (2002)

HJELMQVIST L., TUSON M., MARFANY M., HERRERO E., BALCELLS S. & GONZÀLEZ-DUARTE R. Comparative analysis of a novel human gene family (ORMDL) encoding evolutionary conserved  ER proteins. Genome Biology 3: 0027.1-0027.16, (2002)

CAÑESTRO C., ALBALAT R., HJELMQVIST L., GODOY L., JÖRNVALL H. & GONZÀLEZ-DUARTE R. Ascidian and amphioxus Adh genes correlate functional and molecular features of the ADH family expansion during vertebrate evolution. J. Mol. Evol. 54: 81-89, (2002)

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

BENACH J , ATRIAN S., GONZALEZ-DUARTE R. & LADENSTEIN R. The catalytic reaction and inhibition mechanism of Drosophila alcohol dehydrogenase. Observation of an enzyme-bound NAD-ketone adduct at 1.4 A resolution by X-ray crystallography. J. Mol. Biol. 289: 335-355,  (1999)

VALERO R., MARFANY G., GONZÁLEZ-ANGULO O., GONZÁLEZ-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: 395-405, (1999)

MARTINEZ MIR A., PALOMA E, ALLIKMETS R., DEAN M., AYUSO C., DEL RIO T.,VILAGELIU LL., GONZÀLEZ-DUARTE R.& BALCELLS S. Retinitis pigmentosa caused by homozygous mutation in the Stargardt disease gene ABCR. Nature Genetics 18: 11-12, (1998)

POMARES, E.; MARFANY, G. & GONZÀLEZ-DUARTE, R. High-Throughput Approaches for the Genetic Diagnosis of Retinal Dystrophies. Retinal Degenerative Diseases: Advances in Experimental Medicine and Biology 723, DOI 10.1007/978-1-4614-0631-0_43, 2011

GONZÁLEZ-DUARTE R., TUSÓN M. & MARFANY G. Ceramide, ceramide kinase and vision defects: a blind spot for lipids. In. Sphingolipid Biology. Yoshio Hirabayashi, Yasuyuki Igarashi & Alfred H. Merrill, eds. Springer-Verlag Tokio, pp 337-344, 2006