THE OCULAR ALBINISM TYPE 1 (OA1) GENE PRODUCT IS AN INTRACELLULAR G PROTEIN-COUPLED RECEPTOR: ENLIGHTENING SIGNAL TRANSDUCTION AT THE INTERNAL MEMBRANES

Scientific Publications

• 2008 HUMAN MOLECULAR GENETICS

  The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells

• 2006 JOURNAL OF CELL SCIENCE

  An unconventional dileucine-based motif and a novel cytosolic motif are required for the lysosomal and melanosomal targeting of OA1

• 2005 PIGMENT CELL RESEARCH

  The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis

• 1998 FERTILITY AND STERILITY

  Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor

• 2000 HUMAN MOLECULAR GENETICS

  Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1

• 2000 HUMAN MOLECULAR GENETICS

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

• 2006 PIGMENT CELL RESEARCH

  The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor

• 2001 HUMAN GENETICS

  Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

• 2002 HUMAN GENE THERAPY

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