Publicacions en col·laboració amb investigadors/es de University of Michigan Medical School (4)

2006

  1. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

    Human Molecular Genetics, Vol. 15, Núm. 11, pp. 1847-1857

  2. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

    Nature Genetics, Vol. 38, Núm. 6, pp. 674-681

2005

  1. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

    Nature Genetics, Vol. 37, Núm. 3, pp. 282-288

  2. RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

    Journal of Biological Chemistry, Vol. 280, Núm. 39, pp. 33580-33587