CHST6 mutation screening and endoplasmatic reticulum stress in macular corneal dystrophy.

ABSTRACT: Macular corneal dystrophy (MCD) is an autosomal recessive disorder mainly caused by gene mutations of carbohydrate sulfotransferase (CHST6) leading to bilateral visual impairment. Because the mechanism underlying this degeneration remains poorly understood, we investigated molecular alterations and pathways that may be involved in MCD in this issue. Different mutation sites were screened by direct sequencing of the coding region of CHST6. In addition, we described morphological changes in MCD keratocytes by light microscopy and electron microscopy and determined the relationship between the development of this disease and the occurrence of apoptosis through flow cytometry, cell counting kit-8, colony formation assay and other experiments. Western blotting and quantitative rea

SUBMITTER: Wang L 

PROVIDER: S-EPMC5707101 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature