(Q34655275)

3 August 2017

title

Expression of human Gaucher disease gene GBA generates neurodevelopmental defects and ER stress in Drosophila eye (English)

1 reference

3 August 2017

0 references

1 reference

10

Naoko Goto-Inoue

1 reference

3 August 2017

Takahiro Suzuki

1

1 reference

3 August 2017

Masami Shimoda

2

1 reference

3 August 2017

Kumpei Ito

3

1 reference

3 August 2017

Shuji Hanai

4

1 reference

3 August 2017

Hidenobu Aizawa

5

1 reference

3 August 2017

Tomoki Kato

6

1 reference

3 August 2017

Kazunori Kawasaki

7

1 reference

3 August 2017

Terumi Yamaguchi

8

1 reference

3 August 2017

Hyung Don Ryoo

9

1 reference

3 August 2017

Mitsutoshi Setou

11

1 reference

3 August 2017

Shoji Tsuji

12

1 reference

3 August 2017

Norio Ishida

13

1 reference

3 August 2017

language of work or name

English

0 references

publication date

2 August 2013

1 reference

3 August 2017

1 reference

3 August 2017

volume

8

1 reference

3 August 2017

issue

8

1 reference

3 August 2017

page(s)

e69147

1 reference

Creative Commons Attribution 4.0 International

3 August 2017

copyright license

start time

2 August 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3732251/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Animal models for Gaucher disease research

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Unfolded proteins and endoplasmic reticulum stress in neurodegenerative disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Drosophila melanogaster in the study of human neurodegeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Drosophila models of neurodegenerative diseases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Unfolded protein response in a Drosophila model for retinal degeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Effective cell and gene therapy in a murine model of Gaucher disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Morphology of foretarsal ventral surfaces of Japanese Papilio butterflies and relations between these morphology, phylogeny and hostplant preferring hierarchy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Drosophila models of neurodegenerative disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Highly conserved Drosophila ananassae timeless gene functions as a clock component in Drosophila melanogaster

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Overexpression of a pattern-recognition receptor, peptidoglycan-recognition protein-LE, activates imd/relish-mediated antibacterial defense and the prophenoloxidase cascade in Drosophila larvae

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Drosophila models of human neurodegenerative disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

A Drosophila model of Parkinson's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Targeted gene expression as a means of altering cell fates and generating dominant phenotypes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Expression of Drosophila glass protein and evidence for negative regulation of its activity in non-neuronal cells by another DNA-binding protein.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Gaucher disease: molecular heterogeneity and phenotype-genotype correlations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene

28 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0069147

Androgen-dependent neurodegeneration by polyglutamine-expanded human androgen receptor in Drosophila.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0069147

Identification of genes that modify ataxin-1-induced neurodegeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0069147

Ire1 regulated XBP1 mRNA splicing is essential for the unfolded protein response (UPR) in Drosophila melanogaster

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0069147

ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0069147

Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732251

ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23936319

12 December 2020

inferred from PubMed ID database lookup

Mutation analysis of Gaucher disease patients in Taiwan: High prevalence of the RecNciI and L444P mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23936319

12 December 2020

inferred from PubMed ID database lookup

Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23936319

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1371/JOURNAL.PONE.0069147

1 reference

3 August 2017

0 references

1 reference

3 August 2017

1 reference