UBIAD1 Mutation Alters a Mitochondrial Prenyltransferase to Cause Schnyder Corneal Dystrophy

@inproceedings{Nickerson2010UBIAD1MA,
  title={UBIAD1 Mutation Alters a Mitochondrial Prenyltransferase to Cause Schnyder Corneal Dystrophy},
  author={Michael L. Nickerson and Brittany N. Kostiha and Wolfgang Brandt and William J. Fredericks and K Xu and Fu-Shin X Yu and Bert Gold and James Chodosh and Marc Goldberg and Da Wen Lu and Masakazu Yamada and Timo M.T. Tervo and Richard Grutzmacher and Chris Croasdale and Maria Hoeltzenbein and John E. Sutphin and Stephen B Malkowicz and Ludger A. Wessjohann and Howard S. Kruth and M. Dean and Jayne S. Weiss},
  booktitle={PloS one},
  year={2010}
}
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 structure. METHODOLOGY/PRINCIPAL FINDINGS We characterized five novel mutations in… CONTINUE READING
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Enzymatic C-C-Coupling Prenylation: Bioinformatics – Modelling – Mechanism – Protein-Redesign – Biocatalytic Application’

  • L Wessjohann, S Zakharova, D Schulze, J Kufka, R Weber
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