Article
Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord.
PLoS genetics - 1 Dec 2008
Montpetit Alexandre, Côté Stéphanie, Brustein Edna, Drouin Christian A, Lapointe Line, Boudreau Michèle, Meloche Caroline, Drouin Régen, Hudson Thomas J, Drapeau Pierre, Cossette Patrick
Abstract excerpt
Adaptor protein (AP) complexes regulate clathrin-coated vesicle assembly, protein cargo sorting, and vesicular trafficking between organelles in eukaryotic cells. Because disruption of the various subunits of the AP complexes is embryonic lethal in the majority of cases, characterization of their function in vivo is still lacking. Here, we describe the first mutation in the human AP1S1 gene, encoding the small...
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