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

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)

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

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