Article
Loss of carbohydrate sulfotransferase 6 function leads to macular corneal dystrophy phenotypes and skeletal defects in zebrafish.
The FEBS journal - 1 Jan 2025
Basol Merve, Ersoz-Gulseven Esra, Ozaktas Helin, Kalyoncu Sibel, Utine Canan Asli, Cakan-Akdogan Gulcin
Abstract excerpt
The carbohydrate sulfotransferase 6 (chst6) gene is linked to macular corneal dystrophy (MCD), a rare disease that leads to bilateral blindness due to the accumulation of opaque aggregates in the corneal stroma. chst6 encodes for a keratan sulfate proteoglycan (KSPG) specific sulfotransferase. MCD patients lose sulfated KSPGs (cKS) in the cornea and the serum. The significance of serum cKS loss has not been...
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