(Q37734625)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24775609%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

title

Visualization of cholesterol deposits in lysosomes of Niemann-Pick type C fibroblasts using recombinant perfringolysin O (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24775609%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

1 reference

Katarzyna Kwiatkowska

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24775609%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

Gabriela Traczyk

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24775609%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

Piotr Koprowski

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24775609%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

7

Magdalena Kulma

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24775609%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

6

Agnieszka Lugowska

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24775609%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

author name string

Ewelina Marszałek-Sadowska

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24775609%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

Małgorzata Musielak

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24775609%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

Anna Grzelczyk

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24775609%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

Andrzej Sobota

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24775609%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

publication date

28 April 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24775609%20AND%20SRC:MED&resulttype=core&format=json

Orphanet Journal of Rare Diseases

16 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24775609%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24775609%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

page(s)

64

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24775609%20AND%20SRC:MED&resulttype=core&format=json

Disease and patient characteristics in NP-C patients: findings from an international disease registry

16 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Membrane assembly of the cholesterol-dependent cytolysin pore complex

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Fluorescent in situ visualization of sterols in Arabidopsis roots.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Niemann-Pick disease type C

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Cholesterol-binding toxins and anti-cholesterol antibodies as structural probes for cholesterol localization

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Cholesterol exposure at the membrane surface is necessary and sufficient to trigger perfringolysin O binding

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Automated microscopy screening for compounds that partially revert cholesterol accumulation in Niemann-Pick C cells

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

The NPC1 protein: structure implies function.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Niemann-Pick disease type C.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Tobacco etch virus protease: mechanism of autolysis and rational design of stable mutants with wild-type catalytic proficiency

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

The cholesterol-dependent cytolysins

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Intracellular cholesterol trafficking: role of the NPC1 protein

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Normal lysosomal morphology and function in LAMP-1-deficient mice

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Structure of a cholesterol-binding, thiol-activated cytolysin and a model of its membrane form

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

A defect in cholesterol esterification in Niemann-Pick disease (type C) patients

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Sphingomyelin-rich domains are sites of lysenin oligomerization: implications for raft studies

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Biotinylated theta-toxin derivative as a probe to examine intracellular cholesterol-rich domains in normal and Niemann-Pick type C1 cells

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Phosphorylation of FcgammaRIIA is required for the receptor-induced actin rearrangement and capping: the role of membrane rafts

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Late endosomal membranes rich in lysobisphosphatidic acid regulate cholesterol transport

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

A lipid associated with the antiphospholipid syndrome regulates endosome structure and function

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

TLC blotting: application to microscale analysis of lipids and as a new approach to lipid-protein interaction

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

A solvent system for delipidation of plasma or serum without protein precipitation

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Recommendations on the diagnosis and management of Niemann-Pick disease type C.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Lysenin-His, a sphingomyelin-recognizing toxin, requires tryptophan 20 for cation-selective channel assembly but not for membrane binding.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Perfringolysin O, a cholesterol-binding cytolysin, as a probe for lipid rafts.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

A novel cholesterol stain reveals early neuronal cholesterol accumulation in the Niemann-Pick type C1 mouse brain

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Trafficking defects in endogenously synthesized cholesterol in fibroblasts, macrophages, hepatocytes, and glial cells from Niemann-Pick type C1 mice

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

The C-terminal domain of perfringolysin O is an essential cholesterol-binding unit targeting to cholesterol-rich microdomains.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Critical role for glycosphingolipids in Niemann-Pick disease type C.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Quantified increases of cholesterol, total lipid and globotriaosylceramide in filipin-positive Niemann-Pick type C fibroblasts

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005833

Identification of a Membrane-Spanning Domain of the Thiol-Activated Pore-Forming ToxinClostridium perfringensPerfringolysin O: An α-Helical to β-Sheet Transition Identified by Fluorescence Spectroscopy†

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-9-64

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24775609

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Studies on the lipids of sheep red blood cells. I. Lipid composition in low and high potassium red cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24775609

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-9-64

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24775609%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

16 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24775609%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

PubMed publication ID

24775609

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24775609%20AND%20SRC:MED&resulttype=core&format=json