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Article

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

6 Apr 2004

Abstract excerpt

Glaucoma is a progressive blinding disease characterized by gradual loss of vision due to optic neuropathy and retinal ganglion cell death. Increased intraocular pressure is a common feature of glaucoma that is thought to arise from an increased resistance to outflow of aqueous humor through the trabecular meshwork. Mutations of the myocilin gene are one cause of autosomal dominant juvenile- and adult-onset...

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Share to Cellular transport and secretion
Share to Glaucoma and retinal disorders
Share to Glycosylation and Glycoproteins Research

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Identifiers

PMID: 15069026
DOI: 10.1093/hmg/ddh128

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Reversal of mutant myocilin non-secretion and cell killing: implications for glaucomaPMID 15069026Read ↗

Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells.Semantic proximity Read ↗

Temperature sensitive secretion of mutant myocilins.Semantic proximity Read ↗

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

Structural basis for anomalous cellular trafficking behavior of glaucoma-associated A427T mutant myocilinSemantic proximity Read ↗

In vitro and in vivo study on the secretion of the Gly367Arg mutant myocilin protein.Semantic proximity Read ↗

Inefficient processing of an olfactomedin-deficient myocilin mutant: potential physiological relevance to glaucoma.Semantic proximity Read ↗

Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Binding of a glaucoma-associated myocilin variant to the αB-crystallin chaperone impedes protein clearance in trabecular meshwork cellsSemantic proximity Read ↗

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.Semantic proximity Read ↗

Calcium dysregulation potentiates wild-type myocilin misfolding: implications for glaucoma pathogenesis.Semantic proximity Read ↗

MYOC/p.G367R mutation induces cell dysfunction of the trabecular meshwork and retina via impairment of the protein degradation mechanismSemantic proximity Read ↗

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