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- Title
UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.
- Authors
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
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 structure.
- Publication
PloS one, 2010, Vol 5, Issue 5, pe10760
- ISSN
1932-6203
- Publication type
Journal Article
- DOI
10.1371/journal.pone.0010760