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Study found that Pldn is present at presynaptic terminals, where it localizes to synaptic microtubules and the cytoskeleton; while pallidin does not have major roles in synaptic growth, structure, or function under basal conditions, pallidin is crucial to maintain the releasable synaptic vesicle pool during conditions of high activity. Stability of Pldn depends crucially on the BLOC-1 subunits dysbindin (zeige DTNBP1 ELISA Kits) and blos1 (zeige BLOC1S1 ELISA Kits).
Mecp2 regulates the expression of components belonging to the dysbindin (zeige DTNBP1 ELISA Kits) interactome
no defects in the known components of pallidin-muted complex (BLOC-1)have been identif (zeige MUTED ELISA Kits)ied in 142 patie (zeige BLOC1S1 ELISA Kits)nts with HPS, suggesting that BLOC-1 function may be critical in humans.
Polycystin-2 (zeige PKD2 ELISA Kits) requires IFT20 (zeige IFT20 ELISA Kits)-GMAP210 (zeige TRIP11 ELISA Kits), the exocyst, and BLOC-1 for trafficking from endosomes to primary cilia.
We found 491 proteins sensitive to dysbindin (zeige DTNBP1 ELISA Kits) and BLOC-1 loss of function
VAMP7 mediates fusion of BLOC-1-dependent transport carriers with melanosomes, illuminate SNARE recycling from melanosomes as a critical BLOC-3-dependent step.
Data suggest functional links between OCA2 and the BLOC-1, BLOC-2, and AP-3 protein complexes involved in melanosome biogenesis.
The identification of the feeble mutation led to our subsequent observations that AP-3 (zeige AP3B1 ELISA Kits), as well as the BLOC-1 and BLOC-2 (zeige HPS6 ELISA Kits) are essential for plasmacytoid dendritic cells signaling through TLR7 (zeige TLR7 ELISA Kits) and TLR9 (zeige TLR9 ELISA Kits).
This study demonstrated that Loss-of-function alleles of BLOC-1, Pldn(pa/pa), and Muted (zeige MUTED ELISA Kits)(mu/mu) revealed that this complex acts as a brain-region-specific regulator of AP-3 (zeige AP3B1 ELISA Kits).
pallidin may play a role in membrane fusion events required for melanosome biogenesis
BLOC-1, a novel complex containing this and muted (zeige MUTED ELISA Kits) proteins involved in the biogenesis of melanosomes and platelet-dense granules
a Cappuccino frameshift mutation abolishes its ability to interact with pallidin-muted (zeige MUTED ELISA Kits) complex (BLOC-1)in mice
The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.
, BLOC-1 subunit 6
, biogenesis of lysosomal organelles complex-1, subunit 5, pallidin
, biogenesis of lysosome-related organelles complex 1 subunit 6
, pallid protein homolog
, syntaxin 13 binding protein 1
, syntaxin 13-interacting protein pallid
, pallidin homolog
, pallid protein
, syntaxin 13-interacting protein pallidin