Publicaciones en colaboración con investigadores/as de University of California Los Angeles (5)

2018

  1. Defective phagosome motility and degradation in cell nonautonomous RPE pathogenesis of a dominant macular degeneration

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 115, Núm. 21, pp. 5468-5473

2015

  1. Microtubule motors transport phagosomes in the RPE, and lack of KLC1 leads to AMD-like pathogenesis

    Journal of Cell Biology, Vol. 210, Núm. 4, pp. 595-611

2013

  1. ADCK4 mutations promote steroid-Resistant nephrotic syndrome through CoQ10 biosynthesis disruption

    Journal of Clinical Investigation, Vol. 123, Núm. 12, pp. 5179-5189

  2. Alterations in Energy Metabolism, Neuroprotection and Visual Signal Transduction in the Retina of Parkinsonian, MPTP-Treated Monkeys

    PLoS ONE, Vol. 8, Núm. 9

  3. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

    American Journal of Human Genetics, Vol. 93, Núm. 2, pp. 336-345