Gemma Marfany i Nadal - Publications

Affiliations: 
Universitat de Barcelona, Barcelona, Cataluña, Spain 

55 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 B Domènech E, Marfany G. The Relevance of Oxidative Stress in the Pathogenesis and Therapy of Retinal Dystrophies. Antioxidants (Basel, Switzerland). 9. PMID 32340220 DOI: 10.3390/antiox9040347  0.6
2020 Toulis V, Marfany G. By the Tips of Your Cilia: Ciliogenesis in the Retina and the Ubiquitin-Proteasome System. Advances in Experimental Medicine and Biology. 1233: 303-310. PMID 32274763 DOI: 10.1007/978-3-030-38266-7_13  0.6
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  0.6
2019 Mirra S, Marfany G. Mitochondrial Gymnastics in Retinal Cells: A Resilience Mechanism Against Oxidative Stress and Neurodegeneration. Advances in Experimental Medicine and Biology. 1185: 513-517. PMID 31884663 DOI: 10.1007/978-3-030-27378-1_84  0.6
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  0.6
2019 Esquerdo-Barragán M, Brooks MJ, Toulis V, Swaroop A, Marfany G. Expression of deubiquitinating enzyme genes in the developing mammal retina. Molecular Vision. 25: 800-813. PMID 31819342  0.6
2019 Mirra S, Marfany G, Garcia-Fernàndez J. Under pressure: Cerebrospinal fluid contribution to the physiological homeostasis of the eye. Seminars in Cell & Developmental Biology. PMID 31761444 DOI: 10.1016/j.semcdb.2019.11.003  0.6
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  0.6
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  0.6
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  0.6
2019 Trigueros S, Domènech EB, Toulis V, Marfany G. In Vitro Gene Delivery in Retinal Pigment Epithelium Cells by Plasmid DNA-Wrapped Gold Nanoparticles. Genes. 10. PMID 30970664 DOI: 10.3390/genes10040289  0.6
2019 Carpi LC, Schieber TA, Pardalos PM, Marfany G, Masoller C, Díaz-Guilera A, Ravetti MG. Assessing diversity in multiplex networks. Scientific Reports. 9: 4511. PMID 30872604 DOI: 10.1038/s41598-019-38869-0  0.6
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  0.6
2017 Albuixech-Crespo B, Herrera-Úbeda C, Marfany G, Irimia M, Garcia-Fernàndez J. Origin and evolution of the chordate central nervous system: insights from amphioxus genoarchitecture. The International Journal of Developmental Biology. 61: 655-664. PMID 29319114 DOI: 10.1387/ijdb.170258jg  0.6
2017 de Lecuona I, Casado M, Marfany G, Lopez Baroni M, Escarrabill M. Gene Editing in Humans: Towards a Global and Inclusive Debate for Responsible Research. The Yale Journal of Biology and Medicine. 90: 673-681. PMID 29259532  0.6
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  0.6
2016 Toulis V, Garanto A, Marfany G. Combining Zebrafish and Mouse Models to Test the Function of Deubiquitinating Enzyme (Dubs) Genes in Development: Role of USP45 in the Retina. Methods in Molecular Biology (Clifton, N.J.). 1449: 85-101. PMID 27613029 DOI: 10.1007/978-1-4939-3756-1_3  0.6
2016 Esquerdo M, Grau-Bové X, Garanto A, Toulis V, Garcia-Monclús S, Millo E, López-Iniesta MJ, Abad-Morales V, Ruiz-Trillo I, Marfany G. Expression Atlas of the Deubiquitinating Enzymes in the Adult Mouse Retina, Their Evolutionary Diversification and Phenotypic Roles. Plos One. 11: e0150364. PMID 26934049 DOI: 10.1371/journal.pone.0150364  0.6
2016 Masoumi KC, Marfany G, Wu Y, Massoumi R. Putative role of SUMOylation in controlling the activity of deubiquitinating enzymes in cancer. Future Oncology (London, England). PMID 26777062 DOI: 10.2217/fon.15.320  0.6
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  0.6
2015 Abad-Morales V, Domènech EB, Garanto A, Marfany G. mRNA expression analysis of the SUMO pathway genes in the adult mouse retina. Biology Open. 4: 224-32. PMID 25617419 DOI: 10.1242/bio.201410645  0.6
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  0.6
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  0.88
2012 Blount JR, Burr AA, Denuc A, Marfany G, Todi SV. Ubiquitin-specific protease 25 functions in Endoplasmic Reticulum-associated degradation. Plos One. 7: e36542. PMID 22590560 DOI: 10.1371/journal.pone.0036542  0.88
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  0.6
2012 Irimia M, Denuc A, Ferran JL, Pernaute B, Puelles L, Roy SW, Garcia-Fernàndez J, Marfany G. Evolutionarily conserved A-to-I editing increases protein stability of the alternative splicing factor Nova1. Rna Biology. 9: 12-21. PMID 22258141 DOI: 10.4161/Rna.9.1.18387  0.88
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  0.6
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  0.88
2011 Irimia M, Denuc A, Burguera D, Somorjai I, Martín-Durán JM, Genikhovich G, Jimenez-Delgado S, Technau U, Roy SW, 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 of the United States of America. 108: 5319-24. PMID 21389270 DOI: 10.1073/Pnas.1012333108  0.88
2010 Denuc A, Marfany G. SUMO and ubiquitin paths converge. Biochemical Society Transactions. 38: 34-9. PMID 20074031 DOI: 10.1042/BST0380034  0.6
2010 Crosas B, Farràs R, Marfany G, Rodríguez MS, Thomson TM. Searching for the boundaries: unlimited expansion of ubiquitin and ubiquitin-like signals in multiple cellular functions. Biochemical Society Transactions. 38: 1-5. PMID 20074026 DOI: 10.1042/BST0380001  0.6
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  0.88
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  0.88
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  0.6
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  0.6
2009 Tuson 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. Molecular Vision. 15: 168-80. PMID 19158957  0.6
2008 Marfany G, Denuc A. To ubiquitinate or to deubiquitinate: it all depends on the partners. Biochemical Society Transactions. 36: 833-8. PMID 18793146 DOI: 10.1042/BST0360833  0.6
2008 Marfany G, Farràs R, Salido E, Xirodimas DP, Rodríguez MS. Much to know about proteolysis: intricate proteolytic machineries compromise essential cellular functions. Biochemical Society Transactions. 36: 781-5. PMID 18793136 DOI: 10.1042/BST0360781  0.6
2008 Rosanas-Urgell A, Garcia-Fernàndez J, Marfany G. ParaHox genes in pancreatic cell cultures: effects on the insulin promoter regulation. International Journal of Biological Sciences. 4: 48-57. PMID 18274620  0.6
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  0.88
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  0.6
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  0.6
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  0.6
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  0.6
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  0.6
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  0.36
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  0.36
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  0.72
1993 Cols N, Marfany G, Atrian S, Gonzàlez-Duarte R. Effect of site-directed mutagenesis on conserved positions of Drosophila alcohol dehydrogenase. Febs Letters. 319: 90-4. PMID 8454065 DOI: 10.1016/0014-5793(93)80043-T  0.44
1993 Garcia-Fernàndez J, Marfany G, Baguñà J, Saló E. Infiltration of mariner elements. Nature. 364: 109-10. PMID 8391644 DOI: 10.1038/364109a0  0.32
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 DOI: 10.1111/J.1399-0004.1993.Tb03908.X  0.48
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  0.6
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  0.44
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  0.32
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  0.88
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