The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency
about
The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapseAssembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1).BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organellesThe dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowthReinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding proteinSystematic discovery of nonobvious human disease models through orthologous phenotypesThe gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle traffickingHermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)Melanosomes--dark organelles enlighten endosomal membrane transportMelanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3Mutations in the clathrin-assembly gene Picalm are responsible for the hematopoietic and iron metabolism abnormalities in fit1 miceThe 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 hippocampusBLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomesBLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoesLarge scale protein identification in intracellular aquaporin-2 vesicles from renal inner medullary collecting ductGenetics of peripheral vestibular dysfunction: lessons from mutant mouse strains.Dysbindin-containing complexes and their proposed functions in brain: from zero to (too) many in a decade.BLOC-1 and BLOC-3 regulate VAMP7 cycling to and from melanosomes via distinct tubular transport carriersInherited platelet dysfunction and hematopoietic transcription factor mutations.Hematopoietic transcription factor mutations: important players in inherited platelet defects.Mutations in the BLOC-1 subunits dysbindin and muted generate divergent and dosage-dependent phenotypes.BLOC-1 deficiency causes alterations in amino acid profile and in phospholipid and adenosine metabolism in the postnatal mouse hippocampus.C. elegans BLOC-1 functions in trafficking to lysosome-related gut granules.Animal models of chronic obstructive pulmonary disease.Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.Distinctive profiles of gene expression in the human nucleus accumbens associated with cocaine and heroin abuseRETRACTED: A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.Gene dosage in the dysbindin schizophrenia susceptibility network differentially affect synaptic function and plasticityChronic obstructive pulmonary disease * 3: Experimental animal models of pulmonary emphysema.Hermansky-Pudlak syndrome: vesicle formation from yeast to man.Cell biology of the BLOC-1 complex subunit dysbindin, a schizophrenia susceptibility gene.Mechanisms of protein delivery to melanosomes in pigment cells.Mixing model systems: using zebrafish and mouse inner ear mutants and other organ systems to unravel the mystery of otoconial development[Biogenesis of melanosomes - the chessboard of pigmentation].An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndromeA review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO.SNAREing immunity: the role of SNAREs in the immune system.Lysosome-related organelles: driving post-Golgi compartments into specialisation.Presynaptic membrane retrieval and endosome biology: defining molecularly heterogeneous synaptic vesicles
P2860
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P2860
The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency
description
1999 nî lūn-bûn
@nan
1999 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի նոյեմբերին 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 pallid gene encodes a nove ...... atelet storage pool deficiency
@ast
The pallid gene encodes a nove ...... atelet storage pool deficiency
@en
The pallid gene encodes a nove ...... atelet storage pool deficiency
@en-gb
The pallid gene encodes a nove ...... atelet storage pool deficiency
@nl
type
label
The pallid gene encodes a nove ...... atelet storage pool deficiency
@ast
The pallid gene encodes a nove ...... atelet storage pool deficiency
@en
The pallid gene encodes a nove ...... atelet storage pool deficiency
@en-gb
The pallid gene encodes a nove ...... atelet storage pool deficiency
@nl
prefLabel
The pallid gene encodes a nove ...... atelet storage pool deficiency
@ast
The pallid gene encodes a nove ...... atelet storage pool deficiency
@en
The pallid gene encodes a nove ...... atelet storage pool deficiency
@en-gb
The pallid gene encodes a nove ...... atelet storage pool deficiency
@nl
P2093
P3181
P356
P1433
P1476
The pallid gene encodes a nove ...... atelet storage pool deficiency
@en
P2093
P2888
P304
P3181
P356
10.1038/14328
P407
P577
1999-11-01T00:00:00Z
P6179
1044548686