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

No abstract is available for this paper.

• Publication year

  2004

• Venue

  Investigative Ophthalmology and Visual Science

• Publication date

  2004-10-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1167/IOVS.04-0300PMID 15452063
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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

  2005cited by this paper
• Genetic complementation and enzyme correlates at the locus encoding the last two steps of de novo pyrimidine biosynthesis in Drosophila melanogaster

  2004cited by this paper
• Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma

  2004cited by this paper
• Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells.

  2003cited by this paper
• Characterization of rabbit myocilin: Implications for human myocilin glycosylation and signal peptide usage

  2003cited by this paper
• Variants of the Myocilin Gene in Japanese Patients with Normal-Tension Glaucoma

  2003cited by this paper
• Tissue differential microarray analysis of dexamethasone induction reveals potential mechanisms of steroid glaucoma.

  2003cited by this paper
• Distribution of myocilin and extracellular matrix components in the juxtacanalicular tissue of human eyes.

  2002cited by this paper
• Expression of wild-type and truncated myocilins in trabecular meshwork cells: their subcellular localizations and cytotoxicities.

  2002cited by this paper
• TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma.

  2002cited by this paper
• Founder TIGR/myocilin mutations for glaucoma in the Québec population.

  2002cited by this paper
• Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosis.

  2002cited by this paper
• Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin

  2002cited by this paper
• In vitro localization of TIGR/MYOC in trabecular meshwork extracellular matrix and binding to fibronectin.

  2002cited by this paper
• Optimedin: a novel olfactomedin-related protein that interacts with myocilin.

  2002cited by this paper
• Myocilin glaucoma.

  2002cited by this paper
• Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function

  2001cited by this paper
• Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.

  2001cited by this paper
• The presence and properties of myocilin in the aqueous humor.

  2001influential reference
• Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC.

  2001cited by this paper
• Characterization of myocilin-myocilin interactions.

  2001cited by this paper
• Inefficient processing of an olfactomedin-deficient myocilin mutant: potential physiological relevance to glaucoma.

  2001influential reference
• Localization of myocilin/trabecular meshwork--inducible glucocorticoid response protein in the human eye.

  2000cited by this paper
• Altered secretion of a TIGR/MYOC mutant lacking the olfactomedin domain.

  2000influential reference
• Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma.

  2000cited by this paper
• Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization.

  2000cited by this paper
• TIGR/myocilin in human aqueous humor.

  2000cited by this paper
• Aggresomes, inclusion bodies and protein aggregation.

  2000cited by this paper
• An impaired routing of wild‐type aquaporin‐2 after tetramerization with an aquaporin‐2 mutant explains dominant nephrogenic diabetes insipidus

  1999cited by this paper
• Protein misfolding and degradation in genetic diseases

  1999cited by this paper
• Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.

  1999influential reference
• GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36.

  1999cited by this paper
• A cellular assay distinguishes normal and mutant TIGR/myocilin protein.

  1999cited by this paper
• Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma.

  1998cited by this paper
• The unfolded protein response: an intracellular signalling pathway with many surprising features.

  1998cited by this paper
• Gene Structure and Properties of TIGR, an Olfactomedin-related Glycoprotein Cloned from Glucocorticoid-induced Trabecular Meshwork Cells*

  1998cited by this paper
• Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma

  1998cited by this paper
• A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma.

  1998cited by this paper
• Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

  1998cited by this paper
• The unfolded protein response : an intracellular signalling pathway with many surprising features

  1998cited by this paper
• Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree.

  1998cited by this paper
• Novel mutations in the TIGR gene in early and late onset open angle glaucoma

  1998cited by this paper
• A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping.

  1997cited by this paper
• Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma.

  1997cited by this paper
• Disulfide bond formation is a determinant of glycosylation site usage in the hemagglutinin-neuraminidase glycoprotein of Newcastle disease virus

  1997cited by this paper
• Recent advances in molecular genetics of glaucomas.

  1997cited by this paper
• Molecular genetics of the glaucomas: mapping of the first five "GLC" loci.

  1997cited by this paper
• Reappraising the risk and benefits of aggressive glaucoma therapy.

  1997cited by this paper
• Identification of a Gene That Causes Primary Open Angle Glaucoma

  1997cited by this paper
• Number of people with glaucoma worldwide.

  1996cited by this paper
• Competition between folding and glycosylation in the endoplasmic reticulum.

  1996cited by this paper
• Mendelian inheritance in man: A catalog of human genes and genetic disorders

  1996cited by this paper
• Intracellular Folding of Tissue-type Plasminogen Activator

  1995cited by this paper
• The global impact of glaucoma.

  1994cited by this paper
• The molecular basis of genetic dominance.

  1994cited by this paper
• Site-directed mutagenesis by overlap extension using the polymerase chain reaction.

  1989cited by this paper
• The epidemiology of open-angle glaucoma: a review.

  1983cited by this paper
• Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive.

  1980cited by this paper
• Human trabecular cells. I. Establishment in tissue culture and growth characteristics.

  1979cited by this paper
• A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding.

  1976cited by this paper

• AAV-DJ–Mediated MYOC Silencing as a Gene Therapy Approach for Myocilin-Associated Glaucoma

  2026cites this paper
• Impaired axonal transport contributes to neurodegeneration in a Cre-inducible mouse model of myocilin-associated glaucoma

  2025cites this paper
• Trabecular meshwork: A pivotal target for evolving glaucoma treatments.

  2025cites this paper
• Protein misfolding and mitochondrial dysfunction in glaucoma

  2025cites this paper
• Monitoring mutant myocilin secretion and localization in trabecular meshwork cell cultures using a protein complementation-based luminescence assay

  2025cites this paper
• Competition between inside-out unfolding and pathogenic aggregation in an amyloid-forming β-propeller

  2024cites this paper
• The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy

  2024cites this paper
• Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases

  2024cites this paper
• Myocilin misfolding and glaucoma: A 20-year update.

  2023cites this paper
• Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel

  2022cites this paper
• Calcium dysregulation potentiates wild-type myocilin misfolding: implications for glaucoma pathogenesis

  2022cites this paper
• Molecular architecture and modifications of full-length myocilin.

  2021cites this paper
• Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data

  2021cites this paper
• Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilin

  2021cites this paper
• Recombinant antibodies recognize conformation-dependent epitopes of the leucine zipper of misfolding-prone myocilin

  2021cites this paper
• Identification and functional study of FOXC1 variants in Chinese families with glaucoma

  2021cites this paper
• A simple secretion assay for assessing new and existing myocilin variants

  2021cites this paper
• Structural Arrangement within a Peptide Fibril Derived from the Glaucoma-Associated Myocilin Olfactomedin Domain.

  2021cites this paper
• Myocilin-associated Glaucoma: A Historical Perspective and Recent Research Progress

  2021cites this paper
• The Genetic and Endoplasmic Reticulum-Mediated Molecular Mechanisms of Primary Open-Angle Glaucoma

  2020cites this paper
• Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies

  2019cites this paper
• Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients

  2019cites this paper
• Stable calcium-free myocilin olfactomedin domain variants reveal challenges in differentiating between benign and glaucoma-causing mutations

  2019cites this paper
• Perspectives Antibodies Used to Detect Glaucoma-Associated Myocilin : More or Less Than Meets the Eye ?

  2019cites this paper
• Antibodies Used to Detect Glaucoma-Associated Myocilin: More or Less Than Meets the Eye?

  2019cites this paper
• Methods for Analyzing Endoplasmic Reticulum Stress in the Trabecular Meshwork of Glaucoma Models.

  2018cites this paper
• Genetic Eye Research in the Philippines

  2018cites this paper
• Epitope mapping of commercial antibodies that detect myocilin.

  2018cites this paper
• Research progress on human genes involved in the pathogenesis of glaucoma

  2018cites this paper
• A novel single nucleotide polymorphism in exon 3 of MYOC enhances the risk of glaucoma

  2018cites this paper
• Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma

  2017cites this paper
• Structure and misfolding of the flexible tripartite coiled coil domain of glaucoma-associated myocilin

  2017cites this paper
• Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals.

  2017cites this paper
• FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25

  2017cites this paper
• Animal Models of Glaucoma

  2016cites this paper
• Expression of Mutant Myocilin Induces Abnormal Intracellular Accumulation of Selected Extracellular Matrix Proteins in the Trabecular Meshwork

  2016cites this paper
• CYP1B1 and MYOC Mutations in Vietnamese Primary Congenital Glaucoma Patients

  2016cites this paper
• Dexamethasone Increases Cdc42 Expression in Human TM-1 Cells

  2015cites this paper
• The Effects of Myocilin Expression on Functionally Relevant Trabecular Meshwork Genes: A Mini-Review

  2014cites this paper
• Identification of a novel MYOC mutation, p.(Trp373), in a family with open angle glaucoma.

  2014cites this paper
• Exploiting the interaction between Grp94 and aggregated myocilin to treat glaucoma.

  2014cites this paper
• Myocilin Regulates Cell Proliferation and Survival*

  2014cites this paper
• Comprehensive analysis of MYOC gene in primary open-angle glaucoma

  2014cites this paper
• The glaucoma-associated olfactomedin domain of myocilin forms polymorphic fibrils that are constrained by partial unfolding and peptide sequence.

  2014cites this paper
• A de novo MYOC mutation detected in juvenile open angle glaucoma associated with reduced myocilin protein in aqueous humor.

  2013cites this paper
• Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry.

  2013cites this paper
• Cystatin A, a Potential Common Link for Mutant Myocilin Causative Glaucoma

  2012cites this paper
• Amyloid fibril formation by the glaucoma-associated olfactomedin domain of myocilin.

  2012cites this paper
• New direction for glaucoma therapeutics: focus on the olfactomedin domain of myocilin.

  2012cites this paper
• Genes of the Unfolded Protein Response Pathway Harbor Risk Alleles for Primary Open Angle Glaucoma

  2011cites this paper
• Primary open-angle glaucoma genes

  2011cites this paper
• Keeping an Eye on Myocilin: A Complex Molecule Associated with Primary Open-Angle Glaucoma Susceptibility

  2011cites this paper
• Molecular chaperone function for myocilin.

  2011cites this paper
• Myocilin Interacts with Syntrophins and Is Member of Dystrophin-associated Protein Complex*

  2011cites this paper
• Myocilin, a glaucoma‐associated protein, promotes cell migration through activation of integrin‐focal adhesion kinase‐serine/threonine kinase signaling pathway

  2011cites this paper
• Olfactomedin 2: expression in the eye and interaction with other olfactomedin domain-containing proteins.

  2011cites this paper
• Biophysical and structural characterization of proteins implicated in glaucoma and Gaucher disease

  2011cites this paper
• The stability of myocilin olfactomedin domain variants provides new insight into glaucoma as a protein misfolding disorder.

  2011cites this paper
• Physiology and pathology of proteostasis in the early secretory compartment.

  2010cites this paper
• Myocilin Levels in Primary Open-angle Glaucoma and Pseudoexfoliation Glaucoma Human Aqueous Humor

  2010cites this paper
• Expression of myocilin mutants sensitizes cells to oxidative stress-induced apoptosis: implication for glaucoma pathogenesis.

  2010cites this paper
• Functional role of proteolytic processing of recombinant myocilin in self-aggregation.

  2010cites this paper
• Myocilin Is a Modulator of Wnt Signaling

  2009cites this paper
• The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East

  2009cites this paper
• Molecular genetics of primary open angle glaucoma and exfoliation syndrome

  2009cites this paper
• Pharmacogenomics of the Intraocular Pressure Response to Glucocorticoids

  2009cites this paper
• Primary open-angle glaucoma.

  2009cites this paper
• Olfactomedin Domain-Containing Proteins: Possible Mechanisms of Action and Functions in Normal Development and Pathology

  2009cites this paper
• Mechanisms of Glaucoma

  2009cites this paper
• The role of proteolytic cellular systems in trabecular meshwork homeostasis.

  2009cites this paper
• Glaucoma-associated myocilin: a better understanding but much more to learn.

  2009influential citation
• Overexpression of Myocilin in the Drosophila Eye Activates the Unfolded Protein Response: Implications for Glaucoma

  2009cites this paper
• Dual localization of wild-type myocilin in the endoplasmic reticulum and extracellular compartment likely occurs due to its incomplete secretion

  2009influential citation
• RNA interference as a gene silencing therapy for mutant MYOC protein in primary open angle glaucoma

  2009cites this paper
• Correction of the disease phenotype of myocilin-causing glaucoma by a natural osmolyte.

  2009cites this paper
• Myocilin from COS-1 cells binds specifically to NIH3T3 cells

  2009cites this paper
• Mechanosensitive Genes in the Trabecular Meshwork at Homeostasis

  2008cites this paper
• Transgenic mice expressing the Tyr437His mutant of human myocilin protein develop glaucoma.

  2008cites this paper
• Aqueous humor myocilin protein levels in normal, genetic carriers, and glaucoma Beagles.

  2008cites this paper
• Myocilin protein levels in the aqueous humor of the glaucomas in selected canine breeds.

  2008cites this paper
• Characterization of monoclonal antibodies against the glaucoma-associated protein myocilin.

  2008cites this paper
• Heterozygous expression of myocilin glaucoma mutants increases secretion of the mutant forms and reduces extracellular processed myocilin

  2008influential citation
• Chapter 12 Molecular Approaches to Glaucoma: Intriguing Clues for Pathology

  2008cites this paper
• The Functional Role of Myocilin in Glaucoma

  2008influential citation
• GENETIC BASIS OF GLAUCOMA IN PAKISTANI FAMILIES

  2008cites this paper
• Angiopoietin-like 7 secretion is induced by glaucoma stimuli and its concentration is elevated in glaucomatous aqueous humor.

  2008cites this paper
• Effects of timolol on MYOC, OPTN, and WDR36 RNA levels.

  2008cites this paper
• Génétique moléculaire du glaucome : caractérisation du Locus GLC1D dans la population canadienne-française

  2007cites this paper
• Identification and functional characterization of a novel MYOC mutation in two primary open angle glaucoma families from The Netherlands.

  2007cites this paper
• In vitro and in vivo study on the secretion of the Gly367Arg mutant myocilin protein.

  2007cites this paper
• Genetic etiologies of glaucoma.

  2007cites this paper
• New perspectives in aqueous humor secretion and in glaucoma: the ciliary body as a multifunctional neuroendocrine gland.

  2007cites this paper
• Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure.

  2007cites this paper
• Protein quality control: the who’s who, the where’s and therapeutic escapes

  2007cites this paper
• Sodium 4-phenylbutyrate acts as a chemical chaperone on misfolded myocilin to rescue cells from endoplasmic reticulum stress and apoptosis.

  2007cites this paper
• Aggregated myocilin induces russell bodies and causes apoptosis: implications for the pathogenesis of myocilin-caused primary open-angle glaucoma.

  2007influential citation
• First look at the effect of overexpression of TIGR/MYOC on the transcriptome of the human trabecular meshwork.

  2006cites this paper
• Mutated mouse and human myocilins have similar properties and do not block general secretory pathway.

  2006cites this paper
• Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.

  2006influential citation
• 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.

  2006cites this paper