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MYOC.D380NvsNull

ABSTRACT: Comparison of human trabecular meshwork transcriptomes of cells overexpressing glaucoma-linked MYOC mutant D380N

ORGANISM(S): Homo sapiens

SUBMITTER: Terete Borras

PROVIDER: E-MEXP-3434 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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

Kennedy K David KD AnithaChristy S A SA Buie Lakisha K LK Borrás Teresa T

PloS one 20120515 5

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 proteolytic process is inhibited by MYOC mutants. In this study, we investigated the mol ...[more]

PMID: 22615763

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