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

PubWeight™: 1.06‹?› | Rank: Top 15%

🔗 View Article (PMC 2615221)

Published in PLoS One on January 16, 2009

Authors

Mary Anna Carbone1, Julien F Ayroles, Akihiko Yamamoto, Tatiana V Morozova, Steven A West, Michael M Magwire, Trudy F C Mackay, Robert R H Anholt

Author Affiliations

1: Department of Genetics, North Carolina State University, Raleigh, North Carolina, USA.

Articles citing this

Unfolded protein response in fuchs endothelial corneal dystrophy: a unifying pathogenic pathway? Am J Ophthalmol (2010) 1.49

Rescue of glaucoma-causing mutant myocilin thermal stability by chemical chaperones. ACS Chem Biol (2010) 1.08

The stability of myocilin olfactomedin domain variants provides new insight into glaucoma as a protein misfolding disorder. Biochemistry (2011) 1.02

Amyloid fibril formation by the glaucoma-associated olfactomedin domain of myocilin. J Mol Biol (2011) 1.02

Olfactomedin proteins: central players in development and disease. Front Cell Dev Biol (2014) 0.97

A molecular mechanism for glaucoma: endoplasmic reticulum stress and the unfolded protein response. Trends Mol Med (2013) 0.96

Glucose-regulated protein 94 triage of mutant myocilin through endoplasmic reticulum-associated degradation subverts a more efficient autophagic clearance mechanism. J Biol Chem (2012) 0.95

Structural basis for misfolding in myocilin-associated glaucoma. Hum Mol Genet (2014) 0.90

Activation of unfolded protein response in transgenic mouse lenses. Invest Ophthalmol Vis Sci (2011) 0.88

The glaucoma-associated olfactomedin domain of myocilin is a novel calcium binding protein. J Biol Chem (2012) 0.88

Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation in Drosophila. Hum Mol Genet (2015) 0.87

Genes of the unfolded protein response pathway harbor risk alleles for primary open angle glaucoma. PLoS One (2011) 0.86

Molecular basis for involvement of CYP1B1 in MYOC upregulation and its potential implication in glaucoma pathogenesis. PLoS One (2012) 0.85

Cystatin a, a potential common link for mutant myocilin causative glaucoma. PLoS One (2012) 0.83

Comprehensive analysis of myocilin variants in east Indian POAG patients. Mol Vis (2012) 0.83

Cellular processing of myocilin. PLoS One (2014) 0.81

Association of a polymorphism in the BIRC6 gene with pseudoexfoliative glaucoma. PLoS One (2014) 0.79

The pathogenic human Torsin A in Drosophila activates the unfolded protein response and increases susceptibility to oxidative stress. BMC Genomics (2015) 0.78

The effects of myocilin expression on functionally relevant trabecular meshwork genes: a mini-review. J Ocul Pharmacol Ther (2014) 0.78

The NADPH metabolic network regulates human αB-crystallin cardiomyopathy and reductive stress in Drosophila melanogaster. PLoS Genet (2013) 0.76

Genetic architecture of natural variation in visual senescence in Drosophila. Proc Natl Acad Sci U S A (2016) 0.76

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma. PLoS One (2017) 0.75

Articles cited by this

Exploration, normalization, and summaries of high density oligonucleotide array probe level data. Biostatistics (2003) 100.88

DAVID: Database for Annotation, Visualization, and Integrated Discovery. Genome Biol (2003) 84.79

A comparison of normalization methods for high density oligonucleotide array data based on variance and bias. Bioinformatics (2003) 82.89

Targeted gene expression as a means of altering cell fates and generating dominant phenotypes. Development (1993) 58.26

Genetic transformation of Drosophila with transposable element vectors. Science (1982) 27.36

Number of people with glaucoma worldwide. Br J Ophthalmol (1996) 14.31

BEHAVIORAL MUTANTS OF Drosophila ISOLATED BY COUNTERCURRENT DISTRIBUTION. Proc Natl Acad Sci U S A (1967) 10.07

Identification of a gene that causes primary open angle glaucoma. Science (1997) 8.14

A Drosophila model of Parkinson's disease. Nature (2000) 7.82

S-nitrosylated protein-disulphide isomerase links protein misfolding to neurodegeneration. Nature (2006) 4.54

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet (1999) 3.24

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) N Engl J Med (1998) 3.18

Alpha-synuclein phosphorylation controls neurotoxicity and inclusion formation in a Drosophila model of Parkinson disease. Nat Neurosci (2005) 2.91

Oxidative stress in glaucomatous neurodegeneration: mechanisms and consequences. Prog Retin Eye Res (2006) 2.49

Of flies and man: Drosophila as a model for human complex traits. Annu Rev Genomics Hum Genet (2006) 2.47

Unfolded protein response in a Drosophila model for retinal degeneration. EMBO J (2006) 2.45

A protocol for dissecting Drosophila melanogaster brains for live imaging or immunostaining. Nat Protoc (2006) 2.44

Role of the unfolded protein response in cell death. Apoptosis (2006) 2.39

The role of oxidative stress in glaucoma. Mutat Res (2006) 2.28

Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells. J Biol Chem (1998) 2.13

Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma. Hum Mol Genet (1997) 2.08

Cytoplasmic aggregates trap polyglutamine-containing proteins and block axonal transport in a Drosophila model of Huntington's disease. Proc Natl Acad Sci U S A (2004) 2.00

A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping. Genomics (1997) 1.80

'Unfolding' pathways in neurodegenerative disease. Trends Neurosci (2003) 1.78

Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells. Biochem Biophys Res Commun (2003) 1.72

Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma. Hum Mol Genet (2004) 1.70

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Hum Mol Genet (2001) 1.67

Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure. Hum Mol Genet (2007) 1.44

Myocilin and glaucoma: facts and ideas. Prog Retin Eye Res (2002) 1.44

Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet (1998) 1.44

Sodium 4-phenylbutyrate acts as a chemical chaperone on misfolded myocilin to rescue cells from endoplasmic reticulum stress and apoptosis. Invest Ophthalmol Vis Sci (2007) 1.41

Intracellular sequestration of hetero-oligomers formed by wild-type and glaucoma-causing myocilin mutants. Invest Ophthalmol Vis Sci (2004) 1.37

Expression of mutated mouse myocilin induces open-angle glaucoma in transgenic mice. J Neurosci (2006) 1.32

Recent developments in understanding the pathophysiology of elevated intraocular pressure. Curr Opin Ophthalmol (2006) 1.29

Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol Vis (2006) 1.27

Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis (2006) 1.26

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. Exp Eye Res (2006) 1.23

GAL4 causes developmental defects and apoptosis when expressed in the developing eye of Drosophila melanogaster. Genet Mol Res (2003) 1.23

Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. Hum Mutat (2003) 1.20

Aggregated myocilin induces russell bodies and causes apoptosis: implications for the pathogenesis of myocilin-caused primary open-angle glaucoma. Am J Pathol (2007) 1.19

Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. Mol Vis (2004) 1.19

Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. Nat Genet (1998) 1.11

Noelins modulate the timing of neuronal differentiation during development. Dev Biol (2005) 1.11

Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma. Mol Cell Biol (2006) 1.11

Inefficient processing of an olfactomedin-deficient myocilin mutant: potential physiological relevance to glaucoma. Biochem Biophys Res Commun (2001) 1.09

Soluble guanylate cyclase is required during development for visual system function in Drosophila. J Neurosci (2001) 1.06

Identification of a new 'TIGR' mutation in a family with juvenile-onset primary open angle glaucoma. Ophthalmic Genet (1997) 1.06

Olfactomedin-2 mediates development of the anterior central nervous system and head structures in zebrafish. Mech Dev (2007) 1.06

Retinal gene profiling in a hereditary rodent model of elevated intraocular pressure. Mol Vis (2006) 1.03

Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa. J Glaucoma (2002) 0.97

Disease-causing mutations in proteins: structural analysis of the CYP1B1 mutations causing primary congenital glaucoma in humans. Biophys J (2006) 0.95

Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma. Arch Ophthalmol (2003) 0.95

A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. Clin Genet (2002) 0.92

Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil. J Med Genet (2004) 0.92

Transcription profiling in Drosophila eyes that overexpress the human glaucoma-associated trabecular meshwork-inducible glucocorticoid response protein/myocilin (TIGR/MYOC). Genetics (2003) 0.89

Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree. Ophthalmology (1998) 0.83

Overexpression of human amyloid precursor protein in Drosophila. Mol Cell Biol Res Commun (2000) 0.83

Did myocilin evolve from two different primordial proteins? Mol Vis (2002) 0.82

Aqueous humor myocilin protein levels in normal, genetic carriers, and glaucoma Beagles. Vet Ophthalmol (2008) 0.82

Immunolocalization of myocilin protein in the anterior eye of normal and primary open-angle glaucomatous dogs. Vet Ophthalmol (2007) 0.79

Articles by these authors

Finding the missing heritability of complex diseases. Nature (2009) 67.95

The Drosophila melanogaster Genetic Reference Panel. Nature (2012) 7.94

The genetics of quantitative traits: challenges and prospects. Nat Rev Genet (2009) 5.99

Systems genetics of complex traits in Drosophila melanogaster. Nat Genet (2009) 5.41

Genetic architecture of quantitative traits in mice, flies, and humans. Genome Res (2009) 4.62

Using whole-genome sequence data to predict quantitative trait phenotypes in Drosophila melanogaster. PLoS Genet (2012) 2.90

Does evolutionary theory need a rethink? Nature (2014) 2.82

Epistasis dominates the genetic architecture of Drosophila quantitative traits. Proc Natl Acad Sci U S A (2012) 2.59

Dopa decarboxylase (Ddc) affects variation in Drosophila longevity. Nat Genet (2003) 2.56

Of flies and man: Drosophila as a model for human complex traits. Annu Rev Genomics Hum Genet (2006) 2.47

Speed-mapping quantitative trait loci using microarrays. Nat Methods (2007) 2.26

Quantitative genomics of aggressive behavior in Drosophila melanogaster. PLoS Genet (2006) 2.17

Genotype-environment interactions at quantitative trait loci affecting inflorescence development in Arabidopsis thaliana. Genetics (2003) 1.92

Dynamic genetic interactions determine odor-guided behavior in Drosophila melanogaster. Genetics (2006) 1.88

The genetic architecture of odor-guided behavior in Drosophila: epistasis and the transcriptome. Nat Genet (2003) 1.85

Quantitative trait loci for inflorescence development in Arabidopsis thaliana. Genetics (2002) 1.84

Quantitative analysis of bristle number in Drosophila mutants identifies genes involved in neural development. Curr Biol (2003) 1.76

Quantitative trait loci affecting starvation resistance in Drosophila melanogaster. Genetics (2004) 1.76

Quantitative trait loci affecting natural variation in Drosophila longevity. Mech Ageing Dev (2004) 1.75

Modulated modularity clustering as an exploratory tool for functional genomic inference. PLoS Genet (2009) 1.71

Quantitative genetic analyses of complex behaviours in Drosophila. Nat Rev Genet (2004) 1.67

Quantitative genomics of locomotor behavior in Drosophila melanogaster. Genome Biol (2007) 1.64

Novel loci control variation in reproductive timing in Arabidopsis thaliana in natural environments. Genetics (2002) 1.63

Co-regulated transcriptional networks contribute to natural genetic variation in Drosophila sleep. Nat Genet (2009) 1.59

Segregating variation in the transcriptome: cis regulation and additivity of effects. Genetics (2006) 1.55

Neurogenetic networks for startle-induced locomotion in Drosophila melanogaster. Proc Natl Acad Sci U S A (2008) 1.51

Phenotypic variation and natural selection at catsup, a pleiotropic quantitative trait gene in Drosophila. Curr Biol (2006) 1.49

hairy: A quantitative trait locus for drosophila sensory bristle number. Genetics (2002) 1.48

Heterogeneous selection at specific loci in natural environments in Arabidopsis thaliana. Genetics (2003) 1.44

The genetic architecture of Drosophila sensory bristle number. Genetics (2002) 1.41

Antitoxin treatment for liver abscess caused by Clostridium perfringens. Clin Mol Hepatol (2013) 1.39

Population genomics of the Wolbachia endosymbiont in Drosophila melanogaster. PLoS Genet (2012) 1.37

Quantitative genomics of starvation stress resistance in Drosophila. Genome Biol (2005) 1.37

Genomic variation and its impact on gene expression in Drosophila melanogaster. PLoS Genet (2012) 1.31

Corynebacterium ulcerans 0102 carries the gene encoding diphtheria toxin on a prophage different from the C. diphtheriae NCTC 13129 prophage. BMC Microbiol (2012) 1.30

The quantitative genetic basis of male mating behavior in Drosophila melanogaster. Genetics (2004) 1.28

Genetic incompatibilities are widespread within species. Nature (2013) 1.28

Phenotypic and transcriptional response to selection for alcohol sensitivity in Drosophila melanogaster. Genome Biol (2007) 1.27

Phenotypic plasticity of the Drosophila transcriptome. PLoS Genet (2012) 1.26

Quantitative trait loci for locomotor behavior in Drosophila melanogaster. Genetics (2006) 1.26

Candidate genes affecting Drosophila life span identified by integrating microarray gene expression analysis and QTL mapping. Mech Ageing Dev (2006) 1.25

Transcriptional response to alcohol exposure in Drosophila melanogaster. Genome Biol (2006) 1.21

Surveillance of the clinical use of mamushi (Gloydius blomhoffii) antivenom in tertiary care centers in Japan. Jpn J Infect Dis (2011) 1.21

Vanaso is a candidate quantitative trait gene for Drosophila olfactory behavior. Genetics (2002) 1.20

Systems genetics analysis of body weight and energy metabolism traits in Drosophila melanogaster. BMC Genomics (2010) 1.19

Plasticity of the chemoreceptor repertoire in Drosophila melanogaster. PLoS Genet (2009) 1.18

Quantitative trait loci for sexual isolation between Drosophila simulans and D. mauritiana. Genetics (2004) 1.18

Quantitative trait loci with age-specific effects on fecundity in Drosophila melanogaster. Genetics (2005) 1.17

Association of polymorphisms in odorant-binding protein genes with variation in olfactory response to benzaldehyde in Drosophila. Genetics (2007) 1.17

Quantitative trait loci affecting the difference in pigmentation between Drosophila yakuba and D. santomea. Genetics (2005) 1.16

Quantitative and molecular genetic analyses of mutations increasing Drosophila life span. PLoS Genet (2010) 1.14

Genome-wide association analysis of oxidative stress resistance in Drosophila melanogaster. PLoS One (2012) 1.14

Mutations in many genes affect aggressive behavior in Drosophila melanogaster. BMC Biol (2009) 1.14

The DSC1 channel, encoded by the smi60E locus, contributes to odor-guided behavior in Drosophila melanogaster. Genetics (2002) 1.13

Impaired olfactory behavior in mice deficient in the alpha subunit of G(o). Brain Res (2002) 1.13

Genome-wide association study of sleep in Drosophila melanogaster. BMC Genomics (2013) 1.11

Phenotypic plasticity and genotype by environment interaction for olfactory behavior in Drosophila melanogaster. Genetics (2008) 1.11

Pleiotropic fitness effects of the Tre1-Gr5a region in Drosophila melanogaster. Nat Genet (2006) 1.10

No evidence for an association between common nonsynonymous polymorphisms in delta and bristle number variation in natural and laboratory populations of Drosophila melanogaster. Genetics (2004) 1.10

The complex genetic architecture of Drosophila life span. Exp Aging Res (2002) 1.09

The genetic basis of postzygotic reproductive isolation between Drosophila santomea and D. yakuba due to hybrid male sterility. Genetics (2006) 1.09

Analysis of natural variation reveals neurogenetic networks for Drosophila olfactory behavior. Proc Natl Acad Sci U S A (2012) 1.08

Quantitative trait loci for aggressive behavior in Drosophila melanogaster. Genetics (2009) 1.08

Museum genomics: low-cost and high-accuracy genetic data from historical specimens. Mol Ecol Resour (2011) 1.07

Genome-wide association for sensitivity to chronic oxidative stress in Drosophila melanogaster. PLoS One (2012) 1.07

Olfactomedin-2 mediates development of the anterior central nervous system and head structures in zebrafish. Mech Dev (2007) 1.06