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Gemma Marfany Nadal

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Publications

  • Tuson M, Garanto A, Gonzalez R and Marfany G.

    Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress.

    MOLECULAR VISION . 15: 168-180. Number of citations: 53

  • Brea-Fernández AJ, Pomares E, Brión MJ, Marfany G, Blanco MJ, Sánchez-Salorio M, Gonzalez R and Carracedo A.

    Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa.

    BRITISH JOURNAL OF OPHTHALMOLOGY . 92(10): 1419-1423. Number of citations: 26

    [doi:10.1136/bjo.2008.139204]

  • Bagiyeva S, Marfany G, Gonzalez-Angulo O and Gonzalez R.

    Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations.

    MOLECULAR VISION . 13: 1458-1468. Number of citations: 45

  • Pomares E, Marfany G, Brión MJ, Carracedo A and Gonzalez 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. Number of citations: 28

    [doi:10.1002/humu.20479]

  • Bosch-Comas A, Lindsten K, Gonzalez R, Masucci MG and Marfany G.

    The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins.

    CELLULAR AND MOLECULAR LIFE SCIENCES . 63(6): 723-734. Number of citations: 45

    [doi:10.1007/s00018-005-5533-1]

  • Cervantes S, Saura CA, Pomares E, Gonzalez R and 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.

    JOURNAL OF BIOLOGICAL CHEMISTRY . 279(35): 36519-36529. Number of citations: 53

    [doi:10.1074/jbc.M404832200]

  • Tuson M, Marfany G and Gonzalez R.

    Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

    AMERICAN JOURNAL OF HUMAN GENETICS . 74(1): 128-138. Number of citations: 161

    [doi:10.1086/381055]

  • Sánchez-Font MF, Sebastià J, Sanfeliu C, Cristòfol R, Marfany G and Gonzalez R.

    Peroxiredoxin 2 (PRDX2), an antioxidant enzyme, is under-expressed in Down syndrome fetal brains.

    CELLULAR AND MOLECULAR LIFE SCIENCES . 60(7): 1513-1523. Number of citations: 48

    [doi:10.1007/s00018-003-3048-1]

  • Sánchez-Font MF, Bosch-Comas A, Gonzalez R and Marfany G.

    Overexpression of FABP7 in Down syndrome fetal brains is associated with PKNOX1 gene-dosage imbalance.

    NUCLEIC ACIDS RESEARCH . 31(11): 2769-2777. Number of citations: 33

    [doi:10.1093/nar/gkg396]

  • Hjelmqvist L, Tuson M, Marfany G, Herrero E, Balcells S and Gonzalez R.

    ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins.

    Genome Biology . 3(6): .