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A molecular mechanism for glaucoma: endoplasmic reticulum stress and the unfolded protein response
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title
A molecular mechanism for glaucoma: endoplasmic reticulum stress and the unfolded protein response
(English)
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PubMed
main subject
endoplasmic reticulum
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author
Mary Anna Carbone
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2
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Mary Anna Carbone
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author name string
Robert R.H. Anholt
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1
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language of work or name
English
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publication date
October 2013
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published in
Trends in Molecular Medicine
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PubMed
volume
19
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stated in
PubMed
issue
10
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PubMed
page(s)
586-93
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PubMed
cites work
Myocilin, a glaucoma-associated protein, promotes cell migration through activation of integrin-focal adhesion kinase-serine/threonine kinase signaling pathway
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Myocilin promotes substrate adhesion, spreading and formation of focal contacts in podocytes and mesangial cells
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Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues
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Studies of scleral biomechanical behavior related to susceptibility for retinal ganglion cell loss in experimental mouse glaucoma
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28 September 2017
Endoplasmic reticulum stress sensing in the unfolded protein response
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The glaucoma-associated olfactomedin domain of myocilin is a novel calcium binding protein
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28 September 2017
Novel and known MYOC exon 3 mutations in an admixed Peruvian primary open-angle glaucoma population
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Glucose regulated protein 78 diminishes α-synuclein neurotoxicity in a rat model of Parkinson disease.
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28 September 2017
Topical ocular sodium 4-phenylbutyrate rescues glaucoma in a myocilin mouse model of primary open-angle glaucoma.
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28 September 2017
A novel feedback loop regulates the response to endoplasmic reticulum stress via the cooperation of cytoplasmic splicing and mRNA translation
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28 September 2017
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.
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28 September 2017
Genes of the unfolded protein response pathway harbor risk alleles for primary open angle glaucoma
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28 September 2017
Myocilin mutations in black South Africans with POAG.
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28 September 2017
Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1
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28 September 2017
Expression of myocilin mutants sensitizes cells to oxidative stress-induced apoptosis: implication for glaucoma pathogenesis
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Association of POAG risk factors and the Thr377Met MYOC mutation in an isolated Greek population
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28 September 2017
Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma
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28 September 2017
Cellular responses to endoplasmic reticulum stress and apoptosis
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28 September 2017
Overexpression of myocilin in the Drosophila eye activates the unfolded protein response: implications for glaucoma
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PubMed Central
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28 September 2017
GRP78: a chaperone with diverse roles beyond the endoplasmic reticulum
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28 September 2017
Zebrafish olfactomedin 1 regulates retinal axon elongation in vivo and is a modulator of Wnt signaling pathway
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28 September 2017
Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.
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PubMed Central
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28 September 2017
Characterization of the intracellular proteolytic cleavage of myocilin and identification of calpain II as a myocilin-processing protease.
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28 September 2017
A Glaucoma Case-control Study of the WDR36 Gene D658G sequence variant
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28 September 2017
Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma
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PubMed Central
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28 September 2017
Functional analysis of the glaucoma-causing TIGR/myocilin protein: integrity of amino-terminal coiled-coil regions and olfactomedin homology domain is essential for extracellular adhesion and secretion
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28 September 2017
Myocilin mutations causing glaucoma inhibit the intracellular endoproteolytic cleavage of myocilin between amino acids Arg226 and Ile227.
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28 September 2017
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma
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28 September 2017
Bioinformatic approaches for identification and characterization of olfactomedin related genes with a potential role in pathogenesis of ocular disorders.
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28 September 2017
Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells
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PubMed Central
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28 September 2017
Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795998
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28 September 2017
Transcription profiling in Drosophila eyes that overexpress the human glaucoma-associated trabecular meshwork-inducible glucocorticoid response protein/myocilin (TIGR/MYOC).
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28 September 2017
Expression of wild-type and truncated myocilins in trabecular meshwork cells: their subcellular localizations and cytotoxicities.
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28 September 2017
Identification and characterization of a novel member of olfactomedin-related protein family, hGC-1, expressed during myeloid lineage development
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28 September 2017
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28 September 2017
Identification of a gene that causes primary open angle glaucoma.
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PubMed Central
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28 September 2017
Molecular cloning of olfactomedin, an extracellular matrix protein specific to olfactory neuroepithelium
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28 September 2017
Gene regulatory network of unfolded protein response genes in endoplasmic reticulum stress
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31 May 2018
The unfolded protein response is associated with early tau pathology in the hippocampus of tauopathies
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PubMed Central
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31 May 2018
Sodium 4-phenylbutyrate acts as a chemical chaperone on misfolded myocilin to rescue cells from endoplasmic reticulum stress and apoptosis
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795998
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31 May 2018
Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795998
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31 May 2018
Variable clinical spectrum of the myocilin Gln368X mutation in a Dutch family with primary open angle glaucoma.
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PubMed Central
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31 May 2018
AAV-mediated delivery of the transcription factor XBP1s into the striatum reduces mutant Huntingtin aggregation in a mouse model of Huntington's disease
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PubMed Central
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28 November 2018
Endoplasmic reticulum stress: a new playER in tauopathies.
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28 November 2018
Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes.
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PubMed Central
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28 November 2018
Meta-analysis of association between optineurin gene and primary open-angle glaucoma.
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PubMed Central
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28 November 2018
Olfactomedin-2 mediates development of the anterior central nervous system and head structures in zebrafish
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PubMed Central
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28 November 2018
Correlation between genotype and phenotype in primary open angle glaucoma of Brazilian families with mutations in exon 3 of the TIGR/MYOC gene.
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PubMed Central
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28 November 2018
Overexpression and properties of wild-type and Tyr437His mutated myocilin in the eyes of transgenic mice
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PubMed Central
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28 November 2018
Exclusion of 14 candidate loci for primary open angle glaucoma in Finnish families
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PubMed Central
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28 November 2018
Neurodegenerative diseases and oxidative stress
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PubMed Central
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28 November 2018
Founder TIGR/myocilin mutations for glaucoma in the Québec population
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795998
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28 November 2018
Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma
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PubMed Central
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28 November 2018
Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3795998
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28 November 2018
Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa
1 reference
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PubMed
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https://pubmed.ncbi.nlm.nih.gov/23876925
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23876925
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Myocilin mt1 promoter polymorphism in Turkish patients with primary open angle glaucoma
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23876925
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23876925
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Glaucoma phenotype in a large Swiss pedigree with the myocilin Gly367Arg mutation
1 reference
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PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23876925
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.MOLMED.2013.06.005
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2119711
OpenCitations bibliographic resource ID
2119711
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2119711
PMC publication ID
3795998
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2119711
PubMed publication ID
23876925
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2119711
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