Publications in collaboration with researchers from University of Genoa (9)

2013

  1. Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS)

    Annals of the Rheumatic Diseases, Vol. 72, Núm. 6, pp. 1044-1052

2008

  1. A block of autophagy in lysosomal storage disorders

    Human Molecular Genetics, Vol. 17, Núm. 1, pp. 119-129

2007

  1. Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 104, Núm. 11, pp. 4506-4511

2005

  1. Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer

    Molecular Therapy, Vol. 12, Núm. 4, pp. 652-658

  2. The ocular albinism type 1 (OA1) gene controls melanosome maturation and size

    Investigative Ophthalmology and Visual Science, Vol. 46, Núm. 12, pp. 4358-4364

2002

  1. Effective retrovirus-mediated gene transfer in normal and mutant human melanocytes

    Human Gene Therapy, Vol. 13, Núm. 8, pp. 947-957

2000

  1. Defective intracellular transport and processing of OA1 is a major caise of ocular albinism type 1

    Human Molecular Genetics, Vol. 9, Núm. 20, pp. 3011-3018

  2. Oa1 knock-out: New insights on the pathogenesis of ocular albinism type 1

    Human Molecular Genetics, Vol. 9, Núm. 19, pp. 2781-2788

1999

  1. Ocular albinism: Evidence for a defect in an intracellular signal transduction system

    Nature Genetics, Vol. 23, Núm. 1, pp. 108-112