Analysis of the lysosomal storage disease Chediak-Higashi syndrome. - Wikidata - awgldk - TriplyDB

Analysis of the lysosomal storage disease Chediak-Higashi syndrome.

Analysis of the lysosomal storage disease Chediak-Higashi syndrome.

http://www.wikidata.org/entity/Q34156514

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Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A Crystal structure of the BEACH domain reveals an unusual fold and extensive association with a novel PH domain The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis Control of parasitophorous vacuole expansion by LYST/Beige restricts the intracellular growth of Leishmania amazonensis SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and is differentially defective in Hermansky-Pudlak syndrome models.BEACH family of proteins: phylogenetic and functional analysis of six Dictyostelium BEACH proteins.EBAG9 tempers lymphocyte killing activity.Induced pluripotent stem cell models of lysosomal storage disorders.Dictyostelium LvsB mutants model the lysosomal defects associated with Chediak-Higashi syndrome.Hermansky-Pudlak syndrome and related disorders of organelle formation.Traffic jam: a compendium of human diseases that affect intracellular transport processes.Normal and abnormal secretion by haemopoietic cells.Lysosomes and the plasma membrane: trypanosomes reveal a secret relationship The role of BEACH proteins in Dictyostelium.Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.CD8 T cells protect adult naive mice from JEV-induced morbidity via lytic function.Induced pluripotent stem cell technology for disease modeling and drug screening with emphasis on lysosomal storage diseases Taking a lipidation-dependent path toward endolysosomes.Neutrophil serine proteases fine-tune the inflammatory response Antagonistic control of lysosomal fusion by Rab14 and the Lyst-related protein LvsB Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.Mechanisms of granule-dependent killing.The Drosophila BEACH family protein, blue cheese, links lysosomal axon transport with motor neuron degeneration.Human immunodeficiency syndromes affecting human natural killer cell cytolytic activity.Neutropenia and primary immunodeficiency diseases.Defective lysosomal exocytosis and plasma membrane repair in Chediak-Higashi/beige cells.Pediatric hemophagocytic syndromes: a diagnostic and therapeutic challenge T cell polarization at the virological synapse.The biogenesis of lysosomes and lysosome-related organelles Use of expression constructs to dissect the functional domains of the CHS/beige protein: identification of multiple phenotypes.Insights into primary immune deficiency from quantitative microscopy.LYST affects lysosome size and quantity, but not trafficking or degradation through autophagy or endocytosis.Multivariate profiling of neurodegeneration-associated changes in a subcellular compartment of neurons via image processing Recruitment of macrophages and polymorphonuclear leukocytes in Lyme carditis.Unique ultrastructure of exorbital lacrimal glands in male NOD and BALB/c mice.Participation of macrophages in atherosclerotic lesion morphology in LDLr-/- mice.Physical, Functional and Genetic Interactions between the BEACH Domain Protein SPIRRIG and LIP5 and SKD1 and Its Role in Endosomal Trafficking to the Vacuole in Arabidopsis.An actin cytoskeletal barrier inhibits lytic granule release from Natural Killer cells in Chediak-Higashi syndrome.Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse.Natural Killer Cells at Ease: Atherosclerosis Is Not Affected by Genetic Depletion or Hyperactivation of Natural Killer Cells.

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P2860

Analysis of the lysosomal storage disease Chediak-Higashi syndrome.

http://www.wikidata.org/entity/Q34156514

description

2000 nî lūn-bûn

@nan

2000 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2000年の論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年论文

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name

Analysis of the lysosomal storage disease Chediak-Higashi syndrome.

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Analysis of the lysosomal storage disease Chediak-Higashi syndrome.

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Analysis of the lysosomal storage disease Chediak-Higashi syndrome.

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type

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Analysis of the lysosomal storage disease Chediak-Higashi syndrome.

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Analysis of the lysosomal storage disease Chediak-Higashi syndrome.

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Analysis of the lysosomal storage disease Chediak-Higashi syndrome.

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Analysis of the lysosomal storage disease Chediak-Higashi syndrome.

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Analysis of the lysosomal storage disease Chediak-Higashi syndrome.

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Analysis of the lysosomal storage disease Chediak-Higashi syndrome.

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Analysis of the lysosomal storage disease Chediak-Higashi syndrome.

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Kaplan J

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Stinchcombe JC

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Ward DM

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P2860

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

Chédiak-Higashi gene in humans I. Impairment of natural-killer function

RACK1, a receptor for activated C kinase and a homolog of the beta subunit of G proteins, inhibits activity of src tyrosine kinases and growth of NIH 3T3 cells

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

Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome

FAN, a novel WD-repeat protein, couples the p55 TNF-receptor to neutral sphingomyelinase

A repeating amino acid motif shared by proteins with diverse cellular roles

The ancient regulatory-protein family of WD-repeat proteins

Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles

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11

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1

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