Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease (Q36398099)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

title

Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

author name string

Leelamma M Panicker

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Diana Miller

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Tea Soon Park

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Brijesh Patel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Judi L Azevedo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Ola Awad

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

M Athar Masood

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Timothy D Veenstra

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Ehud Goldin

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Barbara K Stubblefield

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Nahid Tayebi

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Swamy K Polumuri

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Stefanie N Vogel

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Ellen Sidransky

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Elias T Zambidis

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

language of work or name

English

0 references

publication date

15 October 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

15 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

volume

109

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

issue

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

page(s)

18054-18059

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

Probing sporadic and familial Alzheimer's disease using induced pluripotent stem cells

15 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

The promise of induced pluripotent stem cells in research and therapy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Therapeutic approaches to bone pathology in Gaucher disease: past, present and future

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Modelling familial dysautonomia in human induced pluripotent stem cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Modelling the long QT syndrome with induced pluripotent stem cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Glucosylceramide in humans.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Isofagomine induced stabilization of glucocerebrosidase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Disease-specific induced pluripotent stem cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Induced pluripotent stem cell lines derived from human somatic cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

A block of autophagy in lysosomal storage disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Pharmacologic chaperoning as a strategy to treat Gaucher disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Enzyme replacement for lysosomal diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Gaucher disease: pathological mechanisms and modern management

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Gaucher disease: complexity in a "simple" disorder

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

An ultrastructural and experimental study on the development of tubular structures in the lysosomes of Gaucher cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Divergent phenotypes in Gaucher disease implicate the role of modifiers

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Erythrophagocytosis in Gaucher cells

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3497826

Gaucher's disease. A morphologic study and measurements of iron metabolism

21 September 2018

1 reference

12 December 2020

A histochemical and electron microscopic study of Gaucher cells

1 reference

12 December 2020

Role of phosphatidylinositol-3 kinase in transcriptional regulation of TLR-induced IL-12 and IL-10 by Fc gamma receptor ligation in murine macrophages

1 reference

12 December 2020

Gaucher disease with foamy transformed macrophages and erythrophagocytic activity

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.1207889109

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23071332%20AND%20SRC:MED&resulttype=core&format=json