1. Mutations in a BTB-kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa
- Author
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Friedman, James S., Ray, Joseph W., Waseem, Naushin, Johnson, Kory, Brooks, Matthew J., Hugosson, Therese, Breuer, Debra, Branham, Kari E., Krauth, Daniel S., Bowne, Sara J., Sullivan, Lori S., Ponjavic, Vesna, Granse, Lotta, Khanna, Ritu, Trager, Edward H., Gieser, Linn M., Hughbanks-Wheaton, Dianna, Cojocaru, Radu I., Ghiasvand, Noor M., Chakarova, Christina F., Abrahamson, Magnus, Goring, Harald H.H., Webster, Andrew R., Birch, David G., Abecasis, Goncalo R., Fann, Yang, Daiger, Stephen P., Heckenlively, John R., Bhattacharya, Shomi S., Andreasson, Sten, and Swaroop, Anand
- Subjects
Retinitis pigmentosa -- Genetic aspects ,Retina -- Genetic aspects ,Satellite DNA -- Usage ,Hypertrichosis -- Genetic aspects ,Gene mutations -- Research ,Biological sciences - Abstract
The article studies retinitis pigmentosa (RP), a genetically heterogeneous group of progressive neurodegenerative disease that result in dysfunction and death of rod and cone photoreceptors in retina. Findings reveal additional role of ubiquitin-proteasome protein-degradation pathway in observing neuronal health.
- Published
- 2009