UBIAD1 Mutation Alters a Mitochondrial Prenyltransferase to Cause Schnyder Corneal Dystrophy

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 los...

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Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2010
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2874009/
https://ncbi.nlm.nih.gov/pubmed/20505825
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0010760
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