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Article

Cystatin a, a potential common link for mutant myocilin causative glaucoma.

PloS one - 1 Jan 2012

Kennedy K David, AnithaChristy S A, Buie Lakisha K, Borrás Teresa

Abstract excerpt

Myocilin (MYOC) is a 504 aa secreted glycoprotein induced by stress factors in the trabecular meshwork tissue of the eye, where it was discovered. Mutations in MYOC are linked to glaucoma. The glaucoma phenotype of each of the different MYOC mutation varies, but all of them cause elevated intraocular pressure (IOP). In cells, forty percent of wild-type MYOC is cleaved by calpain II, a cysteine protease. This...

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Source

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Identifiers

PMID: 22615763
DOI: 10.1371/journal.pone.0036301
PMCID: PMC3352898

Genes

MYOC
CSTA
CALR
CXCL12
EDN1
FBN1
IGF1
LOXL1
MGP
MMP1
PDIA4
STC1
TAC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cystatin a, a potential common link for mutant myocilin causative glaucoma.PMID 22615763Read ↗

Serine to proline mutation at position 341 of MYOC impairs trabecular meshwork function by causing autophagy deregulationSemantic proximity Read ↗

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

Serine to proline mutation at position 341 of MYOC impairs trabecular meshwork function by causing autophagy deregulationSemantic proximity Read ↗

Keeping an Eye on Myocilin: A Complex Molecule Associated with Primary Open-Angle Glaucoma SusceptibilitySemantic proximity Read ↗

Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.Semantic proximity Read ↗

Somatic Mutations within Myocilin due to Aging may be a Potential Risk Factor for Glaucoma.Semantic proximity Read ↗

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

The effects of myocilin expression on functionally relevant trabecular meshwork genes: a mini-review.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 ↗

Lentiviral mediated delivery of CRISPR/Cas9 reduces intraocular pressure in a mouse model of myocilin glaucomaSemantic proximity Read ↗

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

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

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