BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4 - Wikidata - awgldk - TriplyDB

BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4

BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4

http://www.wikidata.org/entity/Q24302143

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Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin.Zinc transporter 2 (SLC30A2) can suppress the vesicular zinc defect of adaptor protein 3-depleted fibroblasts by promoting zinc accumulation in lysosomes Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6 Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6 Genetic interstitial lung disease Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3 The BLOC-1 complex promotes endosomal maturation by recruiting the Rab5 GTPase-activating protein Msb3.Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9 BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes The trans-Golgi network accessory protein p56 promotes long-range movement of GGA/clathrin-containing transport carriers and lysosomal enzyme sorting.BLOC-1 and BLOC-3 regulate VAMP7 cycling to and from melanosomes via distinct tubular transport carriers Role of the endocytic machinery in the sorting of lysosome-associated membrane proteins Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.Increasing the complexity: new genes and new types of albinism.Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects.Cargo sorting to lysosome-related organelles regulates siRNA-mediated gene silencing.Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models.Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease Intermediate filaments and vesicular membrane traffic: the odd couple's first dance?A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8 An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.Hermansky-Pudlak syndrome type 1 in patients of Indian descent.Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1.The endo-lysosomal sorting machinery interacts with the intermediate filament cytoskeleton.Caenorhabditis elegans HOPS and CCZ-1 mediate trafficking to lysosome-related organelles independently of RAB-7 and SAND-1.Molecular determinants of platelet delta storage pool deficiencies: an update.Hypopigmentation in Hermansky-Pudlak syndrome.The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2).Pallidin protein in neurodevelopment and its relation to the pathogenesis of schizophrenia.Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype.Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XV.

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BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4

http://www.wikidata.org/entity/Q24302143

description

2003 nî lūn-bûn

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2003 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի օգոստոսին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年论文

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BLOC-3, a protein complex cont ...... me gene products HPS1 and HPS4

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BLOC-3, a protein complex cont ...... me gene products HPS1 and HPS4

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BLOC-3, a protein complex cont ...... me gene products HPS1 and HPS4

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BLOC-3, a protein complex cont ...... me gene products HPS1 and HPS4

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BLOC-3, a protein complex cont ...... me gene products HPS1 and HPS4

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BLOC-3, a protein complex cont ...... me gene products HPS1 and HPS4

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BLOC-3, a protein complex cont ...... me gene products HPS1 and HPS4

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BLOC-3, a protein complex cont ...... me gene products HPS1 and HPS4

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BLOC-3, a protein complex cont ...... me gene products HPS1 and HPS4

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BLOC-3, a protein complex cont ...... me gene products HPS1 and HPS4

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BLOC-3, a protein complex cont ...... me gene products HPS1 and HPS4

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BLOC-3, a protein complex cont ...... me gene products HPS1 and HPS4

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P1433

Journal of Biological Chemistry

P1476

BLOC-3, a protein complex cont ...... me gene products HPS1 and HPS4

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P2093

José A Martina

http://www.w3.org/2001/XMLSchema#string

Kengo Moriyama

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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

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene

AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes

BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules

AP-3: an adaptor-like protein complex with ubiquitous expression.

Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles

Characterization of the adaptor-related protein complex, AP-3

A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3.

The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation

P304

29376-29384

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scholarly article

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4204911

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P356

10.1074/JBC.M301294200

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31

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P478

278

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Juan S. Bonifacino

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2003-05-19T00:00:00Z

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10752406

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12756248

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P921

HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

HPS4 biogenesis of lysosomal organelles complex 3 subunit 2