C Fillat

Summary

Affiliation: Hospital Duran i Reynals
Country: Spain

Publications

  1. ncbi request reprint Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome
    C Fillat
    Centre de Genètica Mèdica i Molecular, Institut de Recerca Oncològica IRO, L Hospitalet de Llobregat, Barcelona, Spain
    Am J Med Genet 100:116-21. 2001
  2. ncbi request reprint Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome
    X Altafaj
    Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, Gran Via s n, Km 2 7, 08907 L Hospitalet de Llobregat, Barcelona, Catalonia, Spain
    Hum Mol Genet 10:1915-23. 2001
  3. ncbi request reprint Neurobehavioral development of two mouse lines commonly used in transgenic studies
    M Dierssen
    Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, 08907 L Hospitalet de Llobregat, Barcelona, Spain
    Pharmacol Biochem Behav 73:19-25. 2002
  4. ncbi request reprint Overexpression of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase in transgenic mice causes hepatic hyperketogenesis
    A Valera
    Department of Biochemistry and Molecular Biology, School of Veterinary Medicine, Autonomous University of Barcelona, Bellaterra, Spain
    J Biol Chem 269:6267-70. 1994
  5. ncbi request reprint Motor phenotypic alterations in TgDyrk1a transgenic mice implicate DYRK1A in Down syndrome motor dysfunction
    M Martinez de Lagran
    Programme of Genes and Disease, Center for Genomic Regulation, 08003 Barcelona, Spain
    Neurobiol Dis 15:132-42. 2004

Collaborators

  • M Dierssen
  • X Estivill
  • X Altafaj
  • M Martinez de Lagran
  • E Marti
  • X Gallego
  • I Sahún
  • J Florez
  • M Oset
  • J Guimera
  • C Baamonde
  • J R Gonzalez
  • J Visa
  • A Valera
  • F Bosch
  • G Asins
  • J Sabater
  • A Pujol
  • M Pelegrin
  • F G Hegardt

Detail Information

Publications5

  1. ncbi request reprint Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome
    C Fillat
    Centre de Genètica Mèdica i Molecular, Institut de Recerca Oncològica IRO, L Hospitalet de Llobregat, Barcelona, Spain
    Am J Med Genet 100:116-21. 2001
    ..Our study demonstrates that WASP genotypes have some concordance with the patients' phenotypes, although mutation 1019delC, identified in a family with several affected members, resulted in high intrafamilial clinical variability...
  2. ncbi request reprint Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome
    X Altafaj
    Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, Gran Via s n, Km 2 7, 08907 L Hospitalet de Llobregat, Barcelona, Catalonia, Spain
    Hum Mol Genet 10:1915-23. 2001
    ..These alterations are comparable with those found in the partial trisomy chromosome 16 murine models of DS and suggest a causative role of DYRK1A in mental retardation and in motor anomalies of DS...
  3. ncbi request reprint Neurobehavioral development of two mouse lines commonly used in transgenic studies
    M Dierssen
    Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, 08907 L Hospitalet de Llobregat, Barcelona, Spain
    Pharmacol Biochem Behav 73:19-25. 2002
    ....
  4. ncbi request reprint Overexpression of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase in transgenic mice causes hepatic hyperketogenesis
    A Valera
    Department of Biochemistry and Molecular Biology, School of Veterinary Medicine, Autonomous University of Barcelona, Bellaterra, Spain
    J Biol Chem 269:6267-70. 1994
    ..This animal model thus shows that the overexpression of mitochondrial HMG-CoA synthase causes ketone body overproduction, suggesting that this enzyme may be a regulatory step in liver ketogenesis...
  5. ncbi request reprint Motor phenotypic alterations in TgDyrk1a transgenic mice implicate DYRK1A in Down syndrome motor dysfunction
    M Martinez de Lagran
    Programme of Genes and Disease, Center for Genomic Regulation, 08003 Barcelona, Spain
    Neurobiol Dis 15:132-42. 2004
    ..These results confirm and extend previous data and provide further insight to the functional domains that might be altered in TgDyrk1a mice and underlying molecular mechanisms of DS motor dysfunction...