Article
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
Nature genetics - 1 Sept 2004
Fan Yanli, Esmail Muneer A, Ansley Stephen J, Blacque Oliver E, Boroevich Keith, Ross Alison J, Moore Susan J, Badano Jose L, May-Simera Helen, Compton Deanna S, Green Jane S, Lewis Richard Alan, van Haelst Mieke M, Parfrey Patrick S, Baillie David L, Beales Philip L, Katsanis Nicholas, Davidson William S, Leroux Michel R
Abstract excerpt
RAB, ADP-ribosylation factors (ARFs) and ARF-like (ARL) proteins belong to the Ras superfamily of small GTP-binding proteins and are essential for various membrane-associated intracellular trafficking processes. None of the approximately 50 known members of this family are linked to human disease. Using a bioinformatic screen for ciliary genes in combination with mutational analyses, we identified ARL6 as the...
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