Article
The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.
Human mutation - 1 Feb 2013
Nickerson Michael L, Bosley Allen D, Weiss Jayne S, Kostiha Brittany N, Hirota Yoshihisa, Brandt Wolfgang, Esposito Dominic, Kinoshita Shigeru, Wessjohann Ludger, Morham Scott G, Andresson Thorkell, Kruth Howard S, Okano Toshio, Dean Michael
Abstract excerpt
Schnyder corneal dystrophy (SCD) is an autosomal dominant disease characterized by germline variants in UBIAD1 introducing missense alterations leading to deposition of cholesterol in the cornea, progressive opacification, and loss of visual acuity. UBIAD1 was recently shown to synthesize menaquinone-4 (MK-4, vitamin K(2) ), but causal mechanisms of SCD are unknown. We report a novel c.864G>A UBIAD1 mutation...
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