Article
UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.
PloS one - 21 May 2010
Nickerson Michael L, Kostiha Brittany N, Brandt Wolfgang, Fredericks William, Xu Ke-Ping, Yu Fu-Shin, Gold Bert, Chodosh James, Goldberg Marc, Lu Da Wen, Yamada Masakazu, Tervo Timo M, Grutzmacher Richard, Croasdale Chris, Hoeltzenbein Maria, Sutphin John, Malkowicz S Bruce, Wessjohann Ludger, Kruth Howard S, Dean Michael, Weiss Jayne S
Abstract excerpt
BACKGROUND: Mutations in a novel gene, UBIAD1, were recently found to cause the autosomal dominant eye disease Schnyder corneal dystrophy (SCD). SCD is characterized by an abnormal deposition of cholesterol and phospholipids in the cornea resulting in progressive corneal opacification and visual loss. We characterized lesions in the UBIAD1 gene in new SCD families and examined protein homology, localization, and...
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