UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.

UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.

<h4>Background</h4>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 opacifica...

Full description

Bibliographic Details
Main Authors: Michael L Nickerson, Brittany N Kostiha, Wolfgang Brandt, William Fredericks, Ke-Ping Xu, Fu-Shin Yu, Bert Gold, James Chodosh, Marc Goldberg, Da Wen Lu, Masakazu Yamada, Timo M Tervo, Richard Grutzmacher, Chris Croasdale, Maria Hoeltzenbein, John Sutphin, S Bruce Malkowicz, Ludger Wessjohann, Howard S Kruth, Michael Dean, Jayne S Weiss
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2010-05-01
Series:PLoS ONE
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20505825/pdf/?tool=EBI

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20505825/pdf/?tool=EBI

Similar Items