Roser Gonzalez-Duarte - Publications

Affiliations: 
Genetica Universitat de Barcelona, Barcelona, Cataluña, Spain 

110 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Domènech EB, Andrés R, López-Iniesta MJ, Mirra S, García-Arroyo R, Milla S, Sava F, Andilla J, Loza-Álvarez P, de la Villa P, Gonzàlez-Duarte R, Marfany G. A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype. Investigative Ophthalmology & Visual Science. 61: 14. PMID 32658961 DOI: 10.1167/iovs.61.8.14  1
2020 Toulis V, Cortés-González V, Castro-Miró M, Sallum JF, Català-Mora J, Villanueva-Mendoza C, Ciccioli M, Gonzàlez-Duarte R, Valero R, Marfany G. Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants. Genes. 11. PMID 32244552 DOI: 10.3390/genes11040378  1
2019 Gonzàlez-Duarte R, de Castro-Miró M, Tuson M, Ramírez-Castañeda V, Gils RV, Marfany G. Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies. Advances in Experimental Medicine and Biology. 1185: 215-219. PMID 31884614 DOI: 10.1007/978-3-030-27378-1_35  1
2019 Arenas-Galnares R, Castillo-Lara S, Toulis V, Boloc D, Gonzàlez-Duarte R, Marfany G, Abril JF. RPGeNet v2.0: expanding the universe of retinal disease gene interactions network. Database : the Journal of Biological Databases and Curation. 2019. PMID 31712826 DOI: 10.1093/database/baz120  1
2019 Valero R, de Castro-Miró M, Jiménez-Ochoa S, Rodríguez-Ezcurra JJ, Marfany G, Gonzàlez-Duarte R. Aberrant Splicing Events Associated to Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1. Genes. 10. PMID 31546658 DOI: 10.3390/genes10100732  1
2019 Bolinches-Amorós A, León M, Del Buey Furió V, Marfany G, Gonzàlez-Duarte R, Erceg S, Lukovic D. Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling. Stem Cell Research. 38: 101455. PMID 31082679 DOI: 10.1016/j.scr.2019.101455  1
2018 de Castro-Miró M, Tonda R, Marfany G, Casaroli-Marano RP, Gonzàlez-Duarte R. Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families. The British Journal of Ophthalmology. PMID 29367200 DOI: 10.1136/bjophthalmol-2017-311427  1
2016 de Castro-Miró M, Tonda R, Escudero-Ferruz P, Andrés R, Mayor-Lorenzo A, Castro J, Ciccioli M, Hidalgo DA, Rodríguez-Ezcurra JJ, Farrando J, Pérez-Santonja JJ, Cormand B, Marfany G, Gonzàlez-Duarte R. Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. Plos One. 11: e0168966. PMID 28005958 DOI: 10.1371/journal.pone.0168966  1
2015 Boloc D, Castillo-Lara S, Marfany G, Gonzàlez-Duarte R, Abril JF. Distilling a Visual Network of Retinitis Pigmentosa Gene-Protein Interactions to Uncover New Disease Candidates. Plos One. 10: e0135307. PMID 26267445 DOI: 10.1371/journal.pone.0135307  1
2015 Marfany G. Clinical applications of high-throughput genetic diagnosis in inherited retinal dystrophies: Present challenges and future directions World Journal of Medical Genetics. 5: 14. DOI: 10.5496/WJMG.V5.I2.14  0.92
2014 de Castro-Miró M, Pomares E, Lorés-Motta L, Tonda R, Dopazo J, Marfany G, Gonzàlez-Duarte R. Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies. Plos One. 9: e88410. PMID 24516651 DOI: 10.1371/journal.pone.0088410  1
2014 Fathinajafabadi A, Pérez-Jiménez E, Riera M, Knecht E, Gonzàlez-Duarte R. CERKL, a retinal disease gene, encodes an mRNA-binding protein that localizes in compact and untranslated mRNPs associated with microtubules. Plos One. 9: e87898. PMID 24498393 DOI: 10.1371/journal.pone.0087898  0.8
2013 Riera M, Burguera D, Garcia-Fernàndez J, Gonzàlez-Duarte R. CERKL knockdown causes retinal degeneration in zebrafish. Plos One. 8: e64048. PMID 23671706 DOI: 10.1371/journal.pone.0064048  0.8
2013 Garanto A, Mandal NA, Egido-Gabás M, Marfany G, Fabriàs G, Anderson RE, Casas J, Gonzàlez-Duarte R. Specific sphingolipid content decrease in Cerkl knockdown mouse retinas. Experimental Eye Research. 110: 96-106. PMID 23501591 DOI: 10.1016/j.exer.2013.03.003  1
2013 Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, ... ... Gonzalez-Duarte R, et al. Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. Plos One. 8: e51622. PMID 23308101 DOI: 10.1371/journal.pone.0051622  1
2012 Wuxiuer Y, Morgunova E, Cols N, Popov A, Karshikoff A, Sylte I, Gonzàlez-Duarte R, Ladenstein R, Winberg JO. An intact eight-membered water chain in drosophilid alcohol dehydrogenases is essential for optimal enzyme activity. The Febs Journal. 279: 2940-56. PMID 22741949 DOI: 10.1111/j.1742-4658.2012.08675.x  0.4
2012 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. 1822: 1258-69. PMID 22549043 DOI: 10.1016/j.bbadis.2012.04.004  1
2012 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. Investigative Ophthalmology & Visual Science. 53: 532-7. PMID 22199244 DOI: 10.1167/iovs.11-7964  0.84
2012 Pomares E, Marfany G, Gonzàlez-Duarte R. High-throughput approaches for the genetic diagnosis of retinal dystrophies. Advances in Experimental Medicine and Biology. 723: 329-35. PMID 22183350 DOI: 10.1007/978-1-4614-0631-0_43  1
2011 Garanto A, Riera M, Pomares E, Permanyer J, de Castro-Miró M, Sava F, Abril JF, Marfany G, Gonzàlez-Duarte R. High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse. Investigative Ophthalmology & Visual Science. 52: 5202-14. PMID 21508105 DOI: 10.1167/iovs.10-7101  1
2010 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: 2656-63. PMID 20042663 DOI: 10.1167/iovs.09-4857  1
2010 Pomares E, Riera M, Permanyer J, Méndez 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 : Ejhg. 18: 118-24. PMID 19584904 DOI: 10.1038/ejhg.2009.114  0.72
2009 Pomares E, Riera M, Castro-Navarro J, Andrés-Gutiérrez 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 & Visual Science. 50: 5107-14. PMID 19516003 DOI: 10.1167/iovs.08-3208  1
2009 Denuc A, Bosch-Comas A, Gonzàlez-Duarte R, Marfany G. The UBA-UIM domains of the USP25 regulate the enzyme ubiquitination state and modulate substrate recognition. Plos One. 4: e5571. PMID 19440361 DOI: 10.1371/journal.pone.0005571  1
2008 Brea-Fernández AJ, Pomares E, Brión MJ, Marfany G, Blanco MJ, Sánchez-Salorio M, González-Duarte R, Carracedo A. Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa. The British Journal of Ophthalmology. 92: 1419-23. PMID 18815424 DOI: 10.1136/bjo.2008.139204  0.36
2007 Bagiyeva S, Marfany G, Gonzalez-Angulo O, Gonzalez-Duarte R. Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations. Molecular Vision. 13: 1458-68. PMID 17893647  1
2007 Pomares E, Marfany G, Brión MJ, 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: 511-6. PMID 17279538 DOI: 10.1002/humu.20479  1
2007 Godoy L, Gonzàlez-Duarte R, Albalat R. Analysis of planarian Adh3 supports an intron-rich architecture and tissue-specific expression for the urbilaterian ancestral form. Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology. 146: 489-95. PMID 17270479 DOI: 10.1016/j.cbpb.2006.11.007  1
2006 Cañestro C, Postlethwait JH, Gonzàlez-Duarte R, Albalat R. Is retinoic acid genetic machinery a chordate innovation? Evolution & Development. 8: 394-406. PMID 16925675 DOI: 10.1111/j.1525-142X.2006.00113.x  1
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: 117-24. PMID 16763671 DOI: 10.7150/IJBS.2.117  1
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. PMID 16733533 DOI: 10.7150/ijbs.2.48  1
2006 Bosch-Comas A, Lindsten K, Gonzàlez-Duarte R, Masucci MG, Marfany G. The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins. Cellular and Molecular Life Sciences : Cmls. 63: 723-34. PMID 16501887 DOI: 10.1007/s00018-005-5533-1  0.48
2005 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. Journal of Molecular Biology. 345: 579-98. PMID 15581900 DOI: 10.1016/j.jmb.2004.10.028  1
2004 Cervantes S, Saura CA, 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. The Journal of Biological Chemistry. 279: 36519-29. PMID 15220354 DOI: 10.1074/jbc.M404832200  1
2004 Tuson 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: 128-38. PMID 14681825 DOI: 10.1086/381055  1
2003 Permanyer J, Gonzàlez-Duarte R, Albalat R. The non-LTR retrotransposons in Ciona intestinalis: new insights into the evolution of chordate genomes. Genome Biology. 4: R73. PMID 14611659 DOI: 10.1186/gb-2003-4-11-r73  1
2003 Cañestro C, Albalat R, Gonzàlez-Duarte R. Isolation and characterization of the first non-autonomous transposable element in amphioxus, ATE-1. Gene. 318: 69-73. PMID 14585499 DOI: 10.1016/j.gene.2003.06.002  1
2003 Albalat R, Permanyer J, Cañestro C, Martínez-Mir A, Gonzàlez-Angulo O, Gonzàlez-Duarte R. The first non-LTR retrotransposon characterised in the cephalochordate amphioxus, BfCR1, shows similarities to CR1-like elements. Cellular and Molecular Life Sciences : Cmls. 60: 803-9. PMID 12785727 DOI: 10.1007/s00018-003-2329-z  1
2003 Sánchez-Font MF, Bosch-Comas A, Gonzàlez-Duarte R, Marfany G. Overexpression of FABP7 in Down syndrome fetal brains is associated with PKNOX1 gene-dosage imbalance. Nucleic Acids Research. 31: 2769-77. PMID 12771203 DOI: 10.1093/nar/gkg396  1
2003 Cañestro C, Godoy L, Gonzàlez-Duarte R, Albalat R. Comparative expression analysis of Adh3 during arthropod, urochordate, cephalochordate, and vertebrate development challenges its predicted housekeeping role. Evolution & Development. 5: 157-62. PMID 12622732 DOI: 10.1046/j.1525-142X.2003.03022.x  1
2002 Paloma E, Coco R, Martínez-Mir A, Vilageliu L, Balcells S, Gonzàlez-Duarte R. Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies. Human Mutation. 20: 476. PMID 12442277 DOI: 10.1002/humu.9086  1
2002 Paloma E, Martínez-Mir A, García-Sandoval B, Ayuso C, Vilageliu L, Gonzàlez-Duarte R, Balcells S. Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa. Journal of Medical Genetics. 39: E66. PMID 12362048 DOI: 10.1136/jmg.39.10.e66  0.84
2002 Hjelmqvist L, Tuson M, Marfany G, Herrero E, Balcells S, Gonzàlez-Duarte R. ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins. Genome Biology. 3: RESEARCH0027. PMID 12093374 DOI: 10.1186/gb-2002-3-6-research0027  1
2002 Cañestro C, Gonzàlez-Duarte R, Albalat R. Minisatellite instability at the Adh locus reveals somatic polymorphism in amphioxus. Nucleic Acids Research. 30: 2871-6. PMID 12087171  1
2002 Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, et al. The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. European Journal of Human Genetics : Ejhg. 10: 197-203. PMID 11973624 DOI: 10.1038/sj.ejhg.5200784  1
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. Journal of Molecular Evolution. 54: 81-9. PMID 11734901 DOI: 10.1007/s00239-001-0020-2  1
2001 Martínez-Mir A, Cañestro C, Gonzàlez-Duarte R, Albalat R. Characterization of the amphioxus presenilin gene in a high gene-density genomic region illustrates duplication during the vertebrate lineage. Gene. 279: 157-64. PMID 11733140 DOI: 10.1016/S0378-1119(01)00751-X  1
2001 Valero R, Bayés M, Francisca Sánchez-Font M, González-Angulo O, Gonzàlez-Duarte R, Marfany G. Characterization of alternatively spliced products and tissue-specific isoforms of USP28 and USP25. Genome Biology. 2: RESEARCH0043. PMID 11597335 DOI: 10.1186/gb-2001-2-10-research0043  0.76
2001 Valls M, Bofill R, Gonzalez-Duarte R, Gonzalez-Duarte P, Capdevila M, Atrian S. A new insight into metallothionein (MT) classification and evolution. The in vivo and in vitro metal binding features of Homarus americanus recombinant MT. The Journal of Biological Chemistry. 276: 32835-43. PMID 11413132 DOI: 10.1074/jbc.M102151200  0.72
2001 Paloma E, Martínez-Mir A, Vilageliu L, Gonzàlez-Duarte R, Balcells S. Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies. Human Mutation. 17: 504-10. PMID 11385708 DOI: 10.1002/humu.1133  0.88
2001 Dalfó D, Cañestro C, Albalat R, Gonzàlez-Duarte R. Characterization of a microsomal retinol dehydrogenase gene from amphioxus: retinoid metabolism before vertebrates. Chemico-Biological Interactions. 130: 359-70. PMID 11306058 DOI: 10.1016/S0009-2797(00)00261-1  1
2000 Cañestro C, Hjelmqvist L, Albalat R, Garcia-Fernàndez J, Gonzàlez-Duarte R, Jörnvall H. Amphioxus alcohol dehydrogenase is a class 3 form of single type and of structural conservation but with unique developmental expression. European Journal of Biochemistry / Febs. 267: 6511-8. PMID 11054102 DOI: 10.1046/j.1432-1327.2000.01711.x  1
2000 Benach J, Atrian S, Fibla J, Gonzàlez-Duarte R, Ladenstein R. Structure-function relationships in Drosophila melanogaster alcohol dehydrogenase allozymes ADH(S), ADH(F) and ADH(UF), and distantly related forms. European Journal of Biochemistry. 267: 3613-22. PMID 10848978 DOI: 10.1046/j.1432-1327.2000.01390.x  0.32
2000 Valls M, de Lorenzo V, Gonzàlez-Duarte R, Atrian S. Engineering outer-membrane proteins in Pseudomonas putida for enhanced heavy-metal bioadsorption. Journal of Inorganic Biochemistry. 79: 219-23. PMID 10830869 DOI: 10.1016/S0162-0134(99)00170-1  0.76
2000 Valero R, Marfany G, González-Angulo O, González-González G, Puelles L, Gonzàlez-Duarte R. USP25, a novel gene encoding a deubiquitinating enzyme, is located in the gene-poor region 21q11.2. Genomics. 62: 395-405. PMID 10644437 DOI: 10.1006/geno.1999.6025  0.68
2000 To-Figueras J, Gené M, Gómez-Catalán J, Piqué E, Borrego N, Marfany G, Gonzalez-Duarte R, Corbella J. Polymorphism of glutathione S-transferase M3: Interaction with glutathione S-transferase MI and lung cancer susceptibility Biomarkers. 5: 73-80.  1
1999 Benach J, Atrian S, Gonzàlez-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. Journal of Molecular Biology. 289: 335-55. PMID 10366509 DOI: 10.1006/jmbi.1999.2765  0.8
1999 Vivas MV, García-Planells J, Ruiz C, Marfany G, Paricio N, Gonzàlez-Duarte R, de Frutos R. GEM, a cluster of repetitive sequences in the Drosophila subobscura genome. Gene. 229: 47-57. PMID 10095103 DOI: 10.1016/S0378-1119(99)00031-1  0.44
1999 Atrian S, Gonzalez-Duarte R. The Drosophila virilis alcohol dehydrogenase catalytic residues are conserved Journal of Molecular Evolution. 48: 262-263. PMID 10093214  1
1999 Valls M, González-Duarte R, Atrian S, De Lorenzo V. Bioaccumulation of heavy metals with protein fusions of metallothionein to bacterial OMPs. Biochimie. 80: 855-61. PMID 9893944 DOI: 10.1016/S0300-9084(00)88880-X  0.88
1999 Luque T, Hjelmqvist L, Marfany G, Danielsson O, El-Ahmad M, Persson B, Jörnvall H, González-Duarte R. Sorbitol dehydrogenase of Drosophila. Gene, protein, and expression data show a two-gene system. The Journal of Biological Chemistry. 273: 34293-301. PMID 9852094 DOI: 10.1074/jbc.273.51.34293  0.56
1998 Benach J, Atrian S, Gonzàlez-Duarte R, Ladenstein R. The refined crystal structure of Drosophila lebanonensis alcohol dehydrogenase at 1.9 A resolution. Journal of Molecular Biology. 282: 383-99. PMID 9735295 DOI: 10.1006/jmbi.1998.2015  0.8
1998 Atrian S, Sánchez-Pulido L, Gonzàlez-Duarte R, Valencia A. Shaping of Drosophila alcohol dehydrogenase through evolution: relationship with enzyme functionality. Journal of Molecular Evolution. 47: 211-21. PMID 9694670 DOI: 10.1007/PL00006378  0.6
1998 Marfany G, Del-Favero J, Valero R, De Jonghe C, Woodrow S, Hendriks L, Van Broeckhoven C, Gonzàlez-Duarte R. Identification of a Drosophila presenilin homologue: evidence of alternatively spliced forms. Journal of Neurogenetics. 12: 41-54. PMID 9666900 DOI: 10.3109/01677069809108554  0.6
1998 Bayés M, Goldaracena B, Martínez-Mir A, Iragui-Madoz MI, Solans T, Chivelet P, Bussaglia E, Ramos-Arroyo MA, Baiget M, Vilageliu L, Balcells S, Gonzàlez-Duarte R, Grinberg D. A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. Journal of Medical Genetics. 35: 141-5. PMID 9507394 DOI: 10.1136/jmg.35.2.141  0.56
1998 Martínez-Mir A, Paloma E, Allikmets R, Ayuso C, del Rio T, Dean M, Vilageliu L, Gonzàlez-Duarte R, Balcells S. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nature Genetics. 18: 11-2. PMID 9425888 DOI: 10.1038/ng0198-11  1
1998 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: 1316-25. PMID 9402741 DOI: 10.1093/oxfordjournals.molbev.a025741  0.76
1997 Capdevila M, Cols N, Romero-Isart N, Gonzàlez-Duarte R, Atrian S, Gonzàlez-Duarte P. Recombinant synthesis of mouse Zn3-beta and Zn4-alpha metallothionein 1 domains and characterization of their cadmium(II) binding capacity. Cellular and Molecular Life Sciences : Cmls. 53: 681-8. PMID 9351472 DOI: 10.1007/s000180050088  0.88
1997 Martínez-Mir A, Vilela C, Bayés M, Valverde D, Dain L, Beneyto M, Marco M, Baiget M, Grinberg D, Balcells S, Gonzàlez-Duarte R, Vilageliu L. Putative association of a mutant ROM1 allele with retinitis pigmentosa. Human Genetics. 99: 827-30. PMID 9187681 DOI: 10.1007/s004390050456  0.6
1997 Martínez-Mir A, Bayés M, Vilageliu L, Grinberg D, Ayuso C, del Río T, García-Sandoval B, Bussaglia E, Baiget M, Gonzàlez-Duarte R, Balcells S. A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. Genomics. 40: 142-6. PMID 9070931 DOI: 10.1006/geno.1996.4528  1
1997 Bayés M, Martínez-Mir A, Valverde D, del Río E, Vilageliu L, Grinberg D, Balcells S, Ayuso C, Baiget M, Gonzàlez-Duarte R. Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease. Clinical Genetics. 50: 380-7. PMID 9007328 DOI: 10.1111/J.1399-0004.1996.TB02392.X  0.44
1996 Chabás A, Cormand B, Balcells S, González-Duarte R, Casanova C, Colomer J, Vilageliu L, Grinberg D. Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain. Journal of Inherited Metabolic Disease. 19: 798-800. PMID 8982958  0.48
1996 Cormand B, Vilageliu L, Balcells S, Gonzàlez-Duarte R, Chabás A, Grinberg D. Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients. Human Mutation. 7: 272-4. PMID 8829663 DOI: 10.1002/(SICI)1098-1004(1996)7:3<272::AID-HUMU14>3.0.CO;2-#  0.8
1996 Valverde D, Solans T, Grinberg D, Balcells S, Vilageliu L, Bayés M, Chivelet P, Besmond C, Goossens M, González-Duarte R, Baiget M. A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. Human Genetics. 97: 35-8. PMID 8557257 DOI: 10.1007/BF00218829  0.56
1995 Chabás A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, Mate I, Sobrino JA, Gonzàlez-Duarte R, Vilageliu L. Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. Journal of Medical Genetics. 32: 740-2. PMID 8544197 DOI: 10.1136/jmg.32.9.740  0.56
1995 Cormand B, Vilageliu L, Burguera JM, Balcells S, Gonzàlez-Duarte R, Grinberg D, Chabás A. Gaucher disease in Spanish patients: analysis of eight mutations. Human Mutation. 5: 303-9. PMID 7627184 DOI: 10.1002/humu.1380050406  0.76
1995 Bayés M, Valverde D, Balcells S, Grinberg D, Vilageliu L, Benítez J, Ayuso C, Beneyto M, Baiget M, Gonzàlez-Duarte R. Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families. Human Genetics. 96: 89-94. PMID 7607661 DOI: 10.1007/BF00214192  0.48
1995 Albalat R, Valls M, Fibla J, Atrian S, Gonzàlez-Duarte R. Involvement of the C-terminal tail in the activity of Drosophila alcohol dehydrogenase. Evaluation of truncated proteins constructed by site-directed mutagenesis. European Journal of Biochemistry / Febs. 233: 498-505. PMID 7588794 DOI: 10.1111/j.1432-1033.1995.498_2.x  0.88
1995 Ladenstein R, Tibbelin G, Karshikoff A, Atrian S, Gonzalez-Duarte R. Well ordered crystals of a short-chain alcohol dehydrogenase from Drosophila lebanonensis: Re-evaluation of the crystallographic data and rotation-function analysis Acta Crystallographica - Section D Biological Crystallography. 51: 69-72. DOI: 10.1107/S0907444994007353  1
1994 Marfany G, Gonzàlez-Duarte R. Characterization and evolution of the Adh genomic region in Drosophila guanche and Drosophila madeirensis. Molecular Phylogenetics and Evolution. 2: 13-22. PMID 8081544 DOI: 10.1006/mpev.1993.1003  1
1994 Valverde D, Bayés M, Martínez I, Grinberg D, Vilageliu L, Balcells S, Gonzàlez-Duarte R, Baiget M. Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172. Human Genetics. 94: 193-4. PMID 8045567 DOI: 10.1007/BF00202869  0.6
1994 Luque T, Atrian S, Danielsson O, Jörnvall H, Gonzàlez-Duarte R. Structure of the Drosophila melanogaster glutathione-dependent formaldehyde dehydrogenase/octanol dehydrogenase gene (class III alcohol dehydrogenase). Evolutionary pathway of the alcohol dehydrogenase genes. European Journal of Biochemistry. 225: 985-93. PMID 7957234 DOI: 10.1111/j.1432-1033.1994.0985b.x  0.6
1994 Albalat R, Marfany G, Gonzàlez-Duarte R. Analysis of nucleotide substitutions and amino acid conservation in the Drosophila Adh genomic region. Genetica. 94: 27-36. PMID 7729694 DOI: 10.1007/BF01429217  1
1993 Fibla J, Gonzàlez-Duarte R. Colorimetric assay to determine alcohol dehydrogenase activity. Journal of Biochemical and Biophysical Methods. 26: 87-93. PMID 8482793 DOI: 10.1016/0165-022X(93)90025-J  0.68
1993 Albalat R, Gonzàlez-Duarte R. Adh and Adh-dup sequences of Drosophila lebanonensis and D. immigrans: interspecies comparisons. Gene. 126: 171-8. PMID 8482531 DOI: 10.1016/0378-1119(93)90364-9  1
1993 Fibla J, Atrian S, Gonzalez-Duarte R. Evidence of serine-protease activity closely associated with Drosophila alcohol dehydrogenase European Journal of Biochemistry. 211: 357-365. PMID 8425545 DOI: 10.1111/j.1432-1033.1993.tb19905.x  1
1993 Chabas A, Castellvi S, Bayes M, Balcells S, Grinberg D, Vilageliu LI, Marfany G, Lissens W, Gonzalez-Duarte R. Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population Clinical Genetics. 44: 320-323. PMID 8131304  1
1993 Visa N, Quintana C, Lopez-Iglesias C, Fibla J, Gonzalez-Duarte R, Santa- Cruz MC. Preservation of antigenic reactivity after cryofixation, cryosubstitution, and cryoembedding in lowicryl HM23: Application to alcohol dehydrogenase in Drosophila fat body Microscopy Research and Technique. 24: 453-454. PMID 7686413  1
1993 Marfany G, Gonzàlez-Duarte R. Evidence for retrotranscription of protein-coding genes in the Drosophila subobscura genome. Journal of Molecular Evolution. 35: 492-501. PMID 1474603 DOI: 10.1007/BF00160210  0.96
1992 Visa N, Fibla J, Santa-Cruz MC, Gonzalez-Duarte R. Developmental profile and tissue distribution of Drosophila alcohol dehydrogenase: An immunochemical analysis with monoclonal antibodies Journal of Histochemistry and Cytochemistry. 40: 39-49. PMID 1729353  1
1992 Visa N, Fibla J, Gonzàlez-Duarte R, Santa-Cruz MC. Progressive redistribution of alcohol dehydrogenase during vitellogenesis in Drosophila melanogaster: characterization of ADH-positive bodies in mature oocytes. Cell and Tissue Research. 268: 217-24. PMID 1617695 DOI: 10.1007/BF00318789  0.6
1992 Marfany G, Gonzalez-Duarte R. The Drosophila subobscura Adh genomic region contains valuable evolutionary markers Molecular Biology and Evolution. 9: 261-277. PMID 1560762  1
1992 Gordon EJ, Bury SM, Sawyer L, Atrian S, Gonzalez-Duarte R. Preliminary X-ray crystallographic studies on alcohol dehydrogenase from Drosophila. Journal of Molecular Biology. 227: 356-8. PMID 1522600 DOI: 10.1016/0022-2836(92)90705-O  1
1992 Krook M, Prozorovski V, Atrian S, Gonzàlez-Duarte R, Jörnvall H. Short-chain dehydrogenases. Proteolysis and chemical modification of prokaryotic 3 alpha/20 beta-hydroxysteroid, insect alcohol and human 15-hydroxyprostaglandin dehydrogenases. European Journal of Biochemistry / Febs. 209: 233-9. PMID 1396701 DOI: 10.1111/j.1432-1033.1992.tb17281.x  1
1992 Cobo A, Grinberg D, Balcells S, Vilageliu L, Gonzàlez-Duarte R, Baiget M. Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population. Human Genetics. 89: 287-91. PMID 1351033 DOI: 10.1007/BF00220541  0.56
1991 Marfany G, Gonzàlez-Duarte R. The Adh genomic region of Drosophila ambigua: evolutionary trends in different species. Journal of Molecular Evolution. 32: 454-62. PMID 1908016 DOI: 10.1007/BF02102647  1
1991 Ribas De Pouplana L, Atrian S, Gonzàlex-Duarte R, Fothergill-Gilmore LA, Kelly SM, Price NC. Structural properties of long- and short-chain alcohol dehydrogenases. Contribution of NAD+ to stability. The Biochemical Journal. 276: 433-8. PMID 1904719  1
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: 315-22. PMID 1860376 DOI: 10.1007/BF00360530  1
1990 Albalat R, Gonzàlez-Duarte R, Alabat R. Nucleotide sequence of the Adh gene of Drosophila lebanonensis. Nucleic Acids Research. 18: 6706. PMID 2251140 DOI: 10.1093/nar/18.22.6706  1
1990 Atrian S, Gonzàlez-Duarte R, Fothergill-Gilmore LA. Synthesis of Drosophila melanogaster alcohol dehydrogenase in yeast. Gene. 93: 205-12. PMID 2121611  1
1990 VISA N, SANTACRUZ M, FIBLA J, GONZALEZDUARTE R. Distribution of alcohol dehydrogenase during oogenesis Cell Biology International Reports. 14: 183. DOI: 10.1016/0309-1651(90)90831-I  0.36
1989 Fibla J, Enjuanes L, Gonzàlez-Duarte R. Inter-specific analysis of Drosophila alcohol dehydrogenase by an immunoenzymatic assay using monoclonal antibodies. Biochemical and Biophysical Research Communications. 160: 638-46. PMID 2497742 DOI: 10.1016/0006-291X(89)92481-9  0.36
1989 Visa N, Gonzàlez-Duarte R, Santa-Cruz MC. A cytological and molecular analysis of Adh gene expression in Drosophila melanogaster polytene chromosomes. Chromosoma. 97: 171-7. PMID 2465876 DOI: 10.1007/BF00327375  0.84
1988 Hernández JJ, Vilageliu L, González-Duarte R. Functional and biochemical features of alcohol dehydrogenase in four species of the obscura group of Drosophila. Genetica. 77: 15-24. PMID 3209073 DOI: 10.1007/BF00058547  1
1986 Atrian S, Gonzàlez-Duarte R. Purification and molecular characterization of alcohol dehydrogenase from Drosophila hydei: conservation in the biochemical features of the enzyme in several species of Drosophila. Biochemical Genetics. 23: 891-911. PMID 3910022 DOI: 10.1007/BF00499936  0.96
1986 Winberg JO, Hovik R, McKinley-McKee JS, Juan E, Gonzalez-Duarte R. Biochemical properties of alcohol dehydrogenase from Drosophila lebanonensis The Biochemical Journal. 235: 481-490. PMID 2943270  1
1986 Gonzalez-Duarte R, Atrian S. Metabolic response to alcohol ingestion in drosophila hydei Heredity. 56: 123-128. DOI: 10.1038/hdy.1986.17  1
1985 Vilageliu L, González-Duarte R. Alcohol dehydrogenase from Drosophila funebris and Drosophila immigrans: molecular and evolutionary aspects. Biochemical Genetics. 22: 797-815. PMID 6393950 DOI: 10.1007/BF00499474  0.88
1982 Juan E, González-Duarte R. Determination of some biochemical and structural features of alcohol dehydrogenases from Drosophila simulans and Drosophila virilis. Comparison of their properties with the Drosophila melanogaster Adhs enzyme. The Biochemical Journal. 195: 61-9. PMID 6796069 DOI: 10.1042/bj1950061  0.96
1981 Juan E, González-Duarte R. Purification and enzyme stability of alcohol dehydrogenase from Drosophila simulans, Drosophila virilis and Drosophila melanogaster adhS. The Biochemical Journal. 189: 105-10. PMID 6779810 DOI: 10.1042/bj1890105  0.96
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