The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness
about
Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinismAP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytesBLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granulesThe Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organellesZinc transporter 2 (SLC30A2) can suppress the vesicular zinc defect of adaptor protein 3-depleted fibroblasts by promoting zinc accumulation in lysosomesBLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomesThe AP-3 complex required for endosomal synaptic vesicle biogenesis is associated with a casein kinase Ialpha-like isoformThe assembly of AP-3 adaptor complex-containing clathrin-coated vesicles on synthetic liposomesAdaptins: the final recountThe gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle traffickingMelanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2Forty Years of Clathrin-coated VesiclesSeptin6 and Septin7 GTP binding proteins regulate AP-3- and ESCRT-dependent multivesicular body biogenesisStructural Basis for the Recognition of Tyrosine-based Sorting Signals by the 3A Subunit of the AP-3 Adaptor ComplexFormation of AP-3 transport intermediates requires Vps41 function.Signal-binding specificity of the mu4 subunit of the adaptor protein complex AP-4Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2Physiological factors that regulate skin pigmentationMutations in the clathrin-assembly gene Picalm are responsible for the hematopoietic and iron metabolism abnormalities in fit1 miceBLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoesA mutation in Rab27a causes the vesicle transport defects observed in ashen miceRoles of BLOC-1 and adaptor protein-3 complexes in cargo sorting to synaptic vesiclesCalcyon, a mammalian specific NEEP21 family member, interacts with adaptor protein complex 3 (AP-3) and regulates targeting of AP-3 cargoes.Protein networks supporting AP-3 function in targeting lysosomal membrane proteins.HOPS interacts with Apl5 at the vacuole membrane and is required for consumption of AP-3 transport vesicles.Characterization of AP3B2_v2, a novel splice variant of human AP3B2.Dysbindin-1, a schizophrenia-related protein, functionally interacts with the DNA- dependent protein kinase complex in an isoform-dependent manner.Genetic analysis of the neuronal and ubiquitous AP-3 adaptor complexes reveals divergent functions in brain.Multi-organellar disorders of pigmentation: tied up in traffic.Regulated secretion from hemopoietic cells.Gene expression changes in areas of focal loss of retinal ganglion cells in the retina of DBA/2J mice.Phosphatidylinositol-4-kinase type II alpha is a component of adaptor protein-3-derived vesicles.Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes.Adaptor protein complexes and intracellular transport.The delta subunit of AP-3 is required for efficient transport of VSV-G from the trans-Golgi network to the cell surface.Membrane dynamics in endocytosis: structure--function relationship.Hermansky-Pudlak syndrome and related disorders of organelle formation.Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells.
P2860
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P2860
The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness
description
1999 nî lūn-bûn
@nan
1999 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
The beta3A subunit gene (Ap3b1 ...... k syndrome and night blindness
@ast
The beta3A subunit gene (Ap3b1 ...... k syndrome and night blindness
@en
The beta3A subunit gene (Ap3b1 ...... k syndrome and night blindness
@en-gb
The beta3A subunit gene (Ap3b1 ...... k syndrome and night blindness
@nl
type
label
The beta3A subunit gene (Ap3b1 ...... k syndrome and night blindness
@ast
The beta3A subunit gene (Ap3b1 ...... k syndrome and night blindness
@en
The beta3A subunit gene (Ap3b1 ...... k syndrome and night blindness
@en-gb
The beta3A subunit gene (Ap3b1 ...... k syndrome and night blindness
@nl
prefLabel
The beta3A subunit gene (Ap3b1 ...... k syndrome and night blindness
@ast
The beta3A subunit gene (Ap3b1 ...... k syndrome and night blindness
@en
The beta3A subunit gene (Ap3b1 ...... k syndrome and night blindness
@en-gb
The beta3A subunit gene (Ap3b1 ...... k syndrome and night blindness
@nl
P2093
P356
P1476
The beta3A subunit gene (Ap3b1 ...... k syndrome and night blindness
@en
P2093
A B Seymour
E M Eicher
M E Rusiniak
M S Robinson
P304
P356
10.1093/HMG/8.2.323
P407
P577
1999-02-01T00:00:00Z