| ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins L Hjelmqvist, M Tuson, G Marfany, E Herrero, S Balcells, ... Genome biology 3, 1-16, 2002 | 272 | 2002 |
| Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26) M Tuson, G Marfany, R Gonzàlez-Duarte The American Journal of Human Genetics 74 (1), 128-138, 2004 | 234 | 2004 |
| The relevance of oxidative stress in the pathogenesis and therapy of retinal dystrophies E B. Domènech, G Marfany Antioxidants 9 (4), 347, 2020 | 135 | 2020 |
| High copy number of highly similar mariner-like transposons in planarian (Platyhelminthe): evidence for a trans-phyla horizontal transfer. J Garcia-Fernandez, JR Bayascas-Ramirez, G Marfany, ... Molecular biology and evolution 12 (3), 421-431, 1995 | 108 | 1995 |
| SUMO and ubiquitin paths converge A Denuc, G Marfany Biochemical Society Transactions 38 (1), 34-39, 2010 | 107 | 2010 |
| Functional implications of the presenilin dimerization: reconstitution of γ-secretase activity by assembly of a catalytic site at the dimer interface of two catalytically … S Cervantes, CA Saura, E Pomares, R Gonzalez-Duarte, G Marfany Journal of Biological Chemistry 279 (35), 36519-36529, 2004 | 82 | 2004 |
| Ubiquitin-specific protease 25 functions in Endoplasmic Reticulum-associated degradation JR Blount, AA Burr, A Denuc, G Marfany, SV Todi PloS one 7 (5), e36542, 2012 | 77 | 2012 |
| Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1 J Permanyer, R Navarro, J Friedman, E Pomares, J Castro-Navarro, ... Investigative ophthalmology & visual science 51 (5), 2656-2663, 2010 | 76 | 2010 |
| The UBA-UIM domains of the USP25 regulate the enzyme ubiquitination state and modulate substrate recognition A Denuc, A Bosch-Comas, R Gonzàlez-Duarte, G Marfany PloS one 4 (5), e5571, 2009 | 75 | 2009 |
| Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress M Tuson, A Garanto, R Gonzàlez-Duarte, G Marfany Molecular vision 15, 168, 2009 | 73 | 2009 |
| Homodimerization of presenilin N-terminal fragments is affected by mutations linked to Alzheimer’s disease S Cervantes, R Gonzàlez-Duarte, G Marfany FEBS letters 505 (1), 81-86, 2001 | 71 | 2001 |
| Peroxiredoxin 2 (PRDX2), an antioxidant enzyme, is underexpressed in Down syndrome fetal brains MF Sanchez-Font, J Sebastià, C Sanfeliu, R Cristòfol, G Marfany, ... Cellular and Molecular Life Sciences CMLS 60, 1513-1523, 2003 | 69 | 2003 |
| Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations S Bagiyeva, G Marfany, O Gonzalez-Angulo, R Gonzalez-Duarte Mol Vis 13 (13), 1458-1468, 2007 | 68 | 2007 |
| Characterization of alternatively spliced products and tissue-specific isoforms of USP28 and USP25 R Valero, M Bayés, M Francisca Sanchez-Font, O González-Angulo, ... Genome biology 2, 1-10, 2001 | 67 | 2001 |
| USP25, a novel gene encoding a deubiquitinating enzyme, is located in the gene-poor region 21q11. 2 R Valero, G Marfany, O González-Angulo, G González-González, ... Genomics 62 (3), 395-405, 1999 | 64 | 1999 |
| The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins A Bosch-Comas, K Lindsten, R Gonzalez-Duarte, MG Masucci, G Marfany Cellular and Molecular Life Sciences CMLS 63, 723-734, 2006 | 63 | 2006 |
| Overexpression of FABP7 in Down syndrome fetal brains is associated with PKNOX1 gene‐dosage imbalance MF Sánchez‐Font, A Bosch‐Comas, R Gonzàlez‐Duarte, G Marfany Nucleic acids research 31 (11), 2769-2777, 2003 | 59 | 2003 |
| Effect of site‐directed mutagenesis on conserved positions of Drosophila alcohol dehydrogenase N Cols, G Marfany, S Atrian, R Gonzàlez-Duarte FEBS letters 319 (1-2), 90-94, 1993 | 58 | 1993 |
| Novel candidate genes and a wide spectrum of structural and point mutations responsible for inherited retinal dystrophies revealed by exome sequencing M de Castro-Miro, R Tonda, P Escudero-Ferruz, R Andrés, ... PloS one 11 (12), e0168966, 2016 | 56 | 2016 |
| Infiltration of mariner elements J Garcia-Fernàndez, G Marfany, J Baguñà, E Saló Nature 364 (6433), 109-109, 1993 | 56 | 1993 |
