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Article

Schnyder corneal dystrophy-associated UBIAD1 is defective in MK-4 synthesis and resists autophagy-mediated degradation.

Journal of lipid research - 1 May 2020

Jun Dong-Jae, Schumacher Marc M, Hwang Seonghwan, Kinch Lisa N, Grishin Nick V, DeBose-Boyd Russell A

Abstract excerpt

The autosomal dominant disorder Schnyder corneal dystrophy (SCD) is caused by mutations in UbiA prenyltransferase domain-containing protein-1 (UBIAD1), which uses geranylgeranyl pyrophosphate (GGpp) to synthesize the vitamin K2 subtype menaquinone-4 (MK-4). SCD is characterized by opacification of the cornea, owing to aberrant build-up of cholesterol in the tissue. We previously discovered that sterols stimulate...

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Identifiers

PMID: 32188638
DOI: 10.1194/jlr.RA119000551
PMCID: PMC7193952

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Schnyder corneal dystrophy-associated UBIAD1 is defective in MK-4 synthesis and resists autophagy-mediated degradation.PMID 32188638Read ↗

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