The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking
about
The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapseBLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granulesBLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding proteinHermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organellesHermansky-Pudlak protein complexes, AP-3 and BLOC-1, differentially regulate presynaptic composition in the striatum and hippocampusRoles of BLOC-1 and adaptor protein-3 complexes in cargo sorting to synaptic vesiclesGenetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.Mutations in the BLOC-1 subunits dysbindin and muted generate divergent and dosage-dependent phenotypes.Dysbindin-1C is required for the survival of hilar mossy cells and the maturation of adult newborn neurons in dentate gyrus.Gene dosage in the dysbindin schizophrenia susceptibility network differentially affect synaptic function and plasticityHermansky-Pudlak syndrome: vesicle formation from yeast to man.Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1.Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes.Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis.An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndromeCan the role of genetic factors in schizophrenia be enlightened by studies of candidate gene mutant mice behaviour?The Proteome of BLOC-1 Genetic Defects Identifies the Arp2/3 Actin Polymerization Complex to Function Downstream of the Schizophrenia Susceptibility Factor Dysbindin at the SynapseThe BLOC-1 Subunit Pallidin Facilitates Activity-Dependent Synaptic Vesicle Recycling.Anti-cancer effects of nitrogen-containing bisphosphonates on human cancer cells.Training and aging modulate the loss-of-balance phenotype observed in a new ENU-induced allele of Otopetrin1.Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome.Reduced expression of the dysbindin-like gene in the Bombyx mori ov mutant exhibiting mottled translucency of the larval skin.Schizophrenia: the "BLOC" may be in the endosomes.Recognition deficits in mice carrying mutations of genes encoding BLOC-1 subunits pallidin or dysbindin.Development of the Swimbladder Surfactant System and Biogenesis of Lysosome-Related Organelles Is Regulated by BLOS1 in Zebrafish.
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P2860
The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking
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2002 nî lūn-bûn
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2002 թուականի Մարտին հրատարակուած գիտական յօդուած
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2002 թվականի մարտին հրատարակված գիտական հոդված
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2002年の論文
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2002年論文
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2002年論文
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2002年論文
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2002年論文
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The gene for the muted (mu) mo ...... regulates vesicle trafficking
@ast
The gene for the muted (mu) mo ...... regulates vesicle trafficking
@en
The gene for the muted (mu) mo ...... regulates vesicle trafficking
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label
The gene for the muted (mu) mo ...... regulates vesicle trafficking
@ast
The gene for the muted (mu) mo ...... regulates vesicle trafficking
@en
The gene for the muted (mu) mo ...... regulates vesicle trafficking
@nl
prefLabel
The gene for the muted (mu) mo ...... regulates vesicle trafficking
@ast
The gene for the muted (mu) mo ...... regulates vesicle trafficking
@en
The gene for the muted (mu) mo ...... regulates vesicle trafficking
@nl
P2093
P2860
P3181
P356
P1476
The gene for the muted (mu) mo ...... regulates vesicle trafficking
@en
P2093
Amna Karim
Bruce A Roe
Edward K Novak
Qing Zhang
Richard T Swank
Tamio Suzuki
Vishnu S Mishra
P2860
P304
P3181
P356
10.1093/HMG/11.6.697
P407
P577
2002-03-15T00:00:00Z