Gemma Marfany

Summary

Affiliation: Universitat de Barcelona
Country: Spain

Publications

  1. pmc Characterization of alternatively spliced products and tissue-specific isoforms of USP28 and USP25
    R Valero
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Av Diagonal 645, 08028 Barcelona, Spain
    Genome Biol 2:RESEARCH0043. 2001
  2. pmc Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1
    Jon Permanyer
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    Invest Ophthalmol Vis Sci 51:2656-63. 2010
  3. doi request reprint Evolutionarily conserved A-to-I editing increases protein stability of the alternative splicing factor Nova1
    Manuel Irimia
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    RNA Biol 9:12-21. 2012
  4. doi request reprint High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse
    Alejandro Garanto
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    Invest Ophthalmol Vis Sci 52:5202-14. 2011
  5. pmc Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects
    Esther Pomares
    Departament de Genetica, Institut de Biomedicina, Universitat de Barcelona, Barcelona, Spain
    Eur J Hum Genet 18:118-24. 2010
  6. doi request reprint Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa
    Esther Pomares
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    Invest Ophthalmol Vis Sci 50:5107-14. 2009
  7. pmc Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress
    Miquel Tuson
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    Mol Vis 15:168-80. 2009
  8. doi request reprint Targeted knockdown of Cerkl, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer
    Alejandro Garanto
    Departament de Genetica, Facultat de Biologia, Spain
    Biochim Biophys Acta 1822:1258-69. 2012
  9. pmc The UBA-UIM domains of the USP25 regulate the enzyme ubiquitination state and modulate substrate recognition
    Amanda Denuc
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    PLoS ONE 4:e5571. 2009
  10. pmc Specific sphingolipid content decrease in Cerkl knockdown mouse retinas
    Alejandro Garanto
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    Exp Eye Res 110:96-106. 2013

Collaborators

Detail Information

Publications21

  1. pmc Characterization of alternatively spliced products and tissue-specific isoforms of USP28 and USP25
    R Valero
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Av Diagonal 645, 08028 Barcelona, Spain
    Genome Biol 2:RESEARCH0043. 2001
    ..We have lately reported the characterization of human USP25, a specific-ubiquitin protease gene at 21q11.2, with a specific pattern of expression in murine fetal brains and adult testis...
  2. pmc Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1
    Jon Permanyer
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    Invest Ophthalmol Vis Sci 51:2656-63. 2010
    ..To identify the genetic basis of a large consanguineous Spanish pedigree affected with autosomal recessive retinitis pigmentosa (arRP) with premature macular atrophy and myopia...
  3. doi request reprint Evolutionarily conserved A-to-I editing increases protein stability of the alternative splicing factor Nova1
    Manuel Irimia
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    RNA Biol 9:12-21. 2012
    ....
  4. doi request reprint High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse
    Alejandro Garanto
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    Invest Ophthalmol Vis Sci 52:5202-14. 2011
    ....
  5. pmc Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects
    Esther Pomares
    Departament de Genetica, Institut de Biomedicina, Universitat de Barcelona, Barcelona, Spain
    Eur J Hum Genet 18:118-24. 2010
    ..Finally, on the basis of the conservation of the SNP haplotype linked to this pathogenic variant, we propose that the E181X mutation spread through a cohort of geographically isolated families by a founder effect...
  6. doi request reprint Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa
    Esther Pomares
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    Invest Ophthalmol Vis Sci 50:5107-14. 2009
    ..A large family with 11 males and 2 females with X-linked retinitis pigmentosa (XLRP) was analyzed in search of pathologic mutations...
  7. pmc Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress
    Miquel Tuson
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    Mol Vis 15:168-80. 2009
    ..We analyzed the RP gene ceramide kinase-like (CERKL) to determine CERKL function and contribution to pathogenesis...
  8. doi request reprint Targeted knockdown of Cerkl, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer
    Alejandro Garanto
    Departament de Genetica, Facultat de Biologia, Spain
    Biochim Biophys Acta 1822:1258-69. 2012
    ....
  9. pmc The UBA-UIM domains of the USP25 regulate the enzyme ubiquitination state and modulate substrate recognition
    Amanda Denuc
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    PLoS ONE 4:e5571. 2009
    ....
  10. pmc Specific sphingolipid content decrease in Cerkl knockdown mouse retinas
    Alejandro Garanto
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    Exp Eye Res 110:96-106. 2013
    ..Altogether, these results highlight the involvement of CERKL in the SPL metabolism, question its role as a kinase, and open new scenarios concerning its function...
  11. doi request reprint SUMO and ubiquitin paths converge
    Amanda Denuc
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Avda Diagonal, 645, 08028 Barcelona, Spain
    Biochem Soc Trans 38:34-9. 2010
    ..Ub and SUMO have met and are now applying for new regulatory roles in the cell...
  12. ncbi request reprint Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations
    Sefayet Bagiyeva
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    Mol Vis 13:1458-68. 2007
    ..To investigate the genetic basis of primary congenital glaucoma (PCG) in a collection of Turkish patients and to assess the pathogenicity of two novel alleles...
  13. ncbi request reprint Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis
    Esther Pomares
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    Hum Mutat 28:511-6. 2007
    ..This type of approach can also be applied to other nonretinal diseases with high genetic heterogeneity, such as hereditary deafness or Parkinson disease...
  14. pmc Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies
    Marta de Castro-Miró
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Instituto de Salud Carlos III, Barcelona, Spain Institut de Biomedicina IBUB, Universitat de Barcelona, Barcelona, Spain
    PLoS ONE 9:e88410. 2014
    ....
  15. ncbi request reprint 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
    Sara Cervantes
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Avda Diagonal 645, E 08028 Barcelona, Spain
    J Biol Chem 279:36519-29. 2004
    ....
  16. pmc Stepwise assembly of the Nova-regulated alternative splicing network in the vertebrate brain
    Manuel Irimia
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona E08028, Spain
    Proc Natl Acad Sci U S A 108:5319-24. 2011
    ..In addition, we find that tissue-specific Nova expression patterns emerged independently in other lineages, suggesting independent assembly of tissue-specific regulatory networks...
  17. doi request reprint To ubiquitinate or to deubiquitinate: it all depends on the partners
    Gemma Marfany
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Avda Diagonal 645, 08028 Barcelona, Spain
    Biochem Soc Trans 36:833-8. 2008
    ....
  18. pmc Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26)
    Miquel Tuson
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    Am J Hum Genet 74:128-38. 2004
    ..This is the first genetic report suggesting a direct link between retinal neurodegeneration in RP and sphingolipid-mediated apoptosis...
  19. pmc ParaHox genes in pancreatic cell cultures: effects on the insulin promoter regulation
    Anna Rosanas-Urgell
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
    Int J Biol Sci 4:48-57. 2008
    ....
  20. doi request reprint Much to know about proteolysis: intricate proteolytic machineries compromise essential cellular functions
    Gemma Marfany
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Avda Diagonal 645, 08028 Barcelona, Spain
    Biochem Soc Trans 36:781-5. 2008
    ..Some of these topics inspired interesting discussions and a significant number of these are developed in the issues reviewed herein...
  21. pmc Overexpression of FABP7 in Down syndrome fetal brains is associated with PKNOX1 gene-dosage imbalance
    Ma Francisca Sánchez-Font
    Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Avda Diagonal, 645, E 08028 Barcelona, Spain
    Nucleic Acids Res 31:2769-77. 2003
    ..Given the role of FABP7 in the establishment, development and maintenance of the CNS, we suggest that the overexpression of FABP7 could contribute to DS-associated neurological disorders...