(Q35083487)

6 August 2017

title

The stability of myocilin olfactomedin domain variants provides new insight into glaucoma as a protein misfolding disorder (English)

1 reference

6 August 2017

J Nicole Burns

1

1 reference

6 August 2017

Katherine C Turnage

series ordinal

2

1 reference

6 August 2017

Chandler A Walker

series ordinal

3

1 reference

6 August 2017

Raquel L Lieberman

series ordinal

4

1 reference

6 August 2017

language of work or name

English

0 references

publication date

9 June 2011

1 reference

6 August 2017

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6 August 2017

volume

50

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6 August 2017

issue

26

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6 August 2017

page(s)

5824-5833

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Biophysical characterization of the olfactomedin domain of myocilin, an extracellular matrix protein implicated in inherited forms of glaucoma

6 August 2017

cites work

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8 July 2018

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Overexpression of myocilin in the Drosophila eye activates the unfolded protein response: implications for glaucoma

8 July 2018

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8 July 2018

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8 July 2018

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Transgenic mice expressing the Tyr437His mutant of human myocilin protein develop glaucoma

8 July 2018

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8 July 2018

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The use of differential scanning fluorimetry to detect ligand interactions that promote protein stability

8 July 2018

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In vitro and in vivo study on the secretion of the Gly367Arg mutant myocilin protein.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Pro370Leu mutant myocilin disturbs the endoplasm reticulum stress response and mitochondrial membrane potential in human trabecular meshwork cells.

8 July 2018

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PROMALS web server for accurate multiple protein sequence alignments

8 July 2018

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8 July 2018

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Sodium 4-phenylbutyrate acts as a chemical chaperone on misfolded myocilin to rescue cells from endoplasmic reticulum stress and apoptosis

8 July 2018

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How do ALS-associated mutations in superoxide dismutase 1 promote aggregation of the protein?

8 July 2018

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

The clinical value of somatic TP53 gene mutations in 1,794 patients with breast cancer

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Temperature sensitive secretion of mutant myocilins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Opinion: What is the role of protein aggregation in neurodegeneration?

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Genetic dissection of myocilin glaucoma

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Expression and characterization of the olfactomedin domain of human myocilin

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Myocilin and glaucoma: facts and ideas.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Quantitative analysis of residual folding and DNA binding in mutant p53 core domain: definition of mutant states for rescue in cancer therapy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

A cellular assay distinguishes normal and mutant TIGR/myocilin protein

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Modulation of myocilin/TIGR expression in human trabecular meshwork.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Thermodynamic stability of wild-type and mutant p53 core domain

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Identification of a gene that causes primary open angle glaucoma.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Correction of the disease phenotype of myocilin-causing glaucoma by a natural osmolyte

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Aggregated myocilin induces russell bodies and causes apoptosis: implications for the pathogenesis of myocilin-caused primary open-angle glaucoma

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Expression of mutated mouse myocilin induces open-angle glaucoma in transgenic mice.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Coiled-coil targeting of myocilin to intracellular membranes.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Extracellular trafficking of myocilin in human trabecular meshwork cells

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Founder TIGR/myocilin mutations for glaucoma in the Québec population.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Myocilin mutations in a population-based sample of cases with open-angle glaucoma: the Rotterdam Study.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Novel mutation in the MYOC gene in primary open glaucoma patients

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Identification of the region in the N-terminal domain responsible for the cytoplasmic localization of Myoc/Tigr and its association with microtubules.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

Primary open-angle glaucoma

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128542

25 October 2018

1 reference

12 December 2020

The peptide backbone plays a dominant role in protein stabilization by naturally occurring osmolytes

1 reference

12 December 2020

Tonography Demonstrates Reduced Facility of Outflow of Aqueous Humor in Myocilin Mutation Carriers

1 reference

12 December 2020

Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree

1 reference

12 December 2020

Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma

1 reference

12 December 2020

Variations in the myocilin gene in patients with open-angle glaucoma

1 reference

12 December 2020

Intracellular sequestration of hetero-oligomers formed by wild-type and glaucoma-causing myocilin mutants

1 reference

12 December 2020

Primary open-angle glaucoma

1 reference

12 December 2020

Identifiers

DOI

10.1021/BI200231X

1 reference

6 August 2017

1 reference

6 August 2017

1 reference