Analysis of the lysosomal storage disease Chediak-Higashi syndrome (Q34156514)

31 July 2017

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title

Analysis of the lysosomal storage disease Chediak-Higashi syndrome (English)

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lysosomal storage disease

31 July 2017

main subject

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31 July 2017

Ward DM

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31 July 2017

Stinchcombe JC

series ordinal

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31 July 2017

Kaplan J

series ordinal

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31 July 2017

publication date

1 November 2000

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31 July 2017

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31 July 2017

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31 July 2017

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31 July 2017

page(s)

816-822

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Genetic defects in Chediak-Higashi syndrome and the beige mouse

31 July 2017

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Identification of the murine beige gene by YAC complementation and positional cloning

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Identification of mutations in two major mRNA isoforms of the Chediak- Higashi syndrome gene in human and mouse

21 January 2018

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Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome

21 January 2018

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Deletion in the beige gene of the beige rat owing to recombination between LINE1s

21 January 2018

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Cloning of bovine LYST gene and identification of a missense mutation associated with Chediak-Higashi syndrome of cattle

21 January 2018

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The Beige/Chediak-Higashi Syndrome Gene Encodes a Widely Expressed Cytosolic Protein

21 January 2018

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The bg allele mutation is due to a LINE1 element retrotransposition

21 January 2018

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

21 January 2018

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21 January 2018

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The ancient regulatory-protein family of WD-repeat proteins

21 January 2018

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Repetitive segmental structure of the transducin beta subunit: homology with the CDC4 gene and identification of related mRNAs

21 January 2018

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The neurobeachin gene (Nbea) identifies a new region of homology between mouse central chromosome 3 and human chromosome 13q13.

21 January 2018

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Strategy for detecting cellular transcripts promoted by human endogenous long terminal repeats: identification of a novel gene (CDC4L) with homology to yeast CDC4

21 January 2018

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

21 January 2018

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LvsA, a protein related to the mouse beige protein, is required for cytokinesis in Dictyostelium

21 January 2018

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

21 January 2018

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Carbamycholine prevents giant granule-formation in cultured fibroblasts from beige (Chediak-Higashi) mice

21 January 2018

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Correction of Leukocyte Function in Chediak-Higashi Syndrome by Ascorbate

21 January 2018

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Abnormal Platelet Function in Chediak-Higashi Syndrome

21 January 2018

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Protein kinase C and its substrates

21 January 2018

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Induction of endocytic vesicles by exogenous C(6)-ceramide

21 January 2018

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RACK1, a Receptor for Activated C Kinase and a Homolog of the β Subunit of G Proteins, Inhibits Activity of Src Tyrosine Kinases and Growth of NIH 3T3 Cells

21 January 2018

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Melanosomes are specialized members of the lysosomal lineage of organelles.

21 January 2018

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Capture and processing of exogenous antigens for presentation on MHC molecules.

21 January 2018

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Chédiak-Higashi gene in humans. II. The selectivity of the defect in natural-killer and antibody-dependent cell-mediated cytotoxicity function

21 January 2018

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Elevated antibody titers to Epstein-Barr virus and low natural killer cell activity in patients with Chediak-Higashi syndrome

21 January 2018

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

21 January 2018

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Regulated secretion from hemopoietic cells

21 January 2018

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Hermansky-Pudlak syndrome and pale ear: melanosome-making for the millennium

21 January 2018

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

21 January 2018

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

21 January 2018

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The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes

21 January 2018

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Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron

21 January 2018

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

21 January 2018

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

21 January 2018

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Partial albinism with immunodeficiency: Griscelli syndrome: Report of a case and review of the literature

21 January 2018

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Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene

21 January 2018

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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

21 January 2018

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A mutation in Rab27a causes the vesicle transport defects observed in ashen mice

21 January 2018

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Deficient geranylgeranylation of Ram/Rab27 in choroideremia.

21 January 2018

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Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis

21 January 2018

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Hermansky-Pudlak syndrome and related disorders of organelle formation

21 January 2018

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Secretory Lysosome Biogenesis in Cytotoxic T Lymphocytes from Normal and Chediak Higashi Syndrome Patients

21 January 2018

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Analyses of Proteins Involved in Vesicular Trafficking in Platelets of Mouse Models of Hermansky Pudlak Syndrome

21 January 2018

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Chédiak-Higashi-Steinbrinck syndrome (CHS) in a 27-year-old woman--effects of G-CSF treatment

21 January 2018

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7 January 2021

Peripheral neuropathy in the Chediak-Higashi syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011102.X

7 January 2021

Giant granules in leukocytes of the beige mouse

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011102.X

7 January 2021

Complementation analysis of Chediak-Higashi Syndrome: The same gene may be responsible for the defect in all patients and species

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011102.X

7 January 2021

A molecular genetic linkage map of mouse chromosome 13 anchored by the beige (bg) and satin (sa) loci

1 reference

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7 January 2021

Rapid down-regulation of protein kinase C in (Chediak-Higashi syndrome) beige mouse by phorbol ester

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011102.X

7 January 2021

The thiol proteinase inhibitors improve the abnormal rapid down-regulation of protein kinase C and the impaired natural killer cell activity in (Chediak-Higashi syndrome) beige mouse

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011102.X

7 January 2021

Thiol proteinase inhibitors reverse the increased protein kinase C down-regulation and concanavalin A cap formation in polymorphonuclear leukocytes from Chediak-Higashi syndrome (beige) mouse

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011102.X

7 January 2021

Abnormal down-regulation of PKC is responsible for giant granule formation in fibroblasts from CHS (beige) mice--a thiol proteinase inhibitor, E-64-d, prevents giant granule formation in beige fibroblasts

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011102.X

7 January 2021

Alteration of Sphingolipid Metabolism in Leukocytes from Patients with the Chediak–Higashi Syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011102.X

7 January 2021

Alteration of e sphingolipid content in leucocytes from patients with Chediak-Higashi syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011102.X

7 January 2021

A human pigmentary dilution based on a heritable subcellular structural defect--the Chediak-Higashi syndrome

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https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011102.X

7 January 2021

Mouse Models of Hermansky Pudlak Syndrome: A Review

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https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011102.X

7 January 2021

The predominant defect in dilute melanocytes is in melanosome distribution and not cell shape, supporting a role for myosin V in melanosome transport

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https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011102.X

7 January 2021

A kindred with Griscelli disease: spectrum of neurological involvement

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7 January 2021

10.1034/J.1600-0854.2000.011102.X

Identifiers

DOI

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31 July 2017

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