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

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2

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31 July 2017

Ward DM

1

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PubMed ID

11208072

31 July 2017

Stinchcombe JC

series ordinal

3

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PubMed ID

11208072

31 July 2017

Kaplan J

series ordinal

4

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31 July 2017

1 November 2000

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31 July 2017

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31 July 2017

1

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31 July 2017

816-822

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31 July 2017

11

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Genetic defects in Chediak-Higashi syndrome and the beige mouse

31 July 2017

1 reference

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

Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome

21 January 2018

1 reference

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

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

21 January 2018

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

Reported causes of death of captive killer whales (Orcinus orca).

21 January 2018

1 reference

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

Identification of the homologous beige and Chediak-Higashi syndrome genes

21 January 2018

1 reference

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

Complementation of the beige mutation in cultured cells by episomally replicating murine yeast artificial chromosomes.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

The Beige/Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein

21 January 2018

1 reference

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

The bg allele mutation is due to a LINE1 element retrotransposition.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

HEAT repeats in the Huntington's disease protein

21 January 2018

1 reference

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

The ancient regulatory-protein family of WD-repeat proteins

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Correction of Leukocyte Function in Chediak-Higashi Syndrome by Ascorbate

21 January 2018

1 reference

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

Abnormal Platelet Function in Chediak-Higashi Syndrome

21 January 2018

1 reference

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

Protein kinase C and its substrates

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Melanosomes are specialized members of the lysosomal lineage of organelles.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Regulated secretion from hemopoietic cells

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

1 reference

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

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Deficient geranylgeranylation of Ram/Rab27 in choroideremia.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Hermansky-Pudlak syndrome and related disorders of organelle formation

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

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

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

1 reference

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

7 January 2021

Mouse models of Hermansky Pudlak syndrome: a review

1 reference

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

1 reference

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

1 reference

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

7 January 2021

10.1034/J.1600-0854.2000.011102.X

Identifiers

DOI

1 reference

31 July 2017

1 reference

PubMed ID

11208072