Publicacións en colaboración con investigadores/as de Universidade de São Paulo (5)

2017

  1. NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology

    Scientific Reports, Vol. 7, Núm. 1

2014

  1. Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1

    Journal of Molecular Medicine, Vol. 92, Núm. 10, pp. 1045-1056

2013

  1. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

    Nature Genetics, Vol. 45, Núm. 9, pp. 1077-1082

2007

  1. Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway

    Human Molecular Genetics, Vol. 16, Núm. 16, pp. 1940-1950

  2. Polyductin undergoes notch-like processing and regulated release from primary cilia

    Human Molecular Genetics, Vol. 16, Núm. 8, pp. 942-956