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. 2015 Jan 7;35(1):325–338. doi: 10.1523/JNEUROSCI.3542-14.2015

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Copyright © 2015 the authors 0270-6474/15/350325-14$15.00/0

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Figure 9. — How do BLOC-1 mutations produce divergent synaptic phenotypes? Model depicts the wild-type BLOC-1 complex and two outcomes of gene loss-of-function alleles on the levels and putative architecture of BLOC-1 and remnants (blurred structures). Mutations induce a downregulation of the whole BLOC-1 octamer (bottom left) and/or generate low levels of BLOC-1 remnants (bottom right). The extent of these two molecular outcomes would be dependent of the mutations affecting BLOC-1 subunit genes. Phenotypes emerge either because of downregulation of the BLOC-1 octamer or the appearance of remnants. See discussion for details.