Abstract
Missense mutations in the gene encoding cellular retinaldehyde-binding protein (CRALBP) associate with early onset autosomal recessive retinitis pigmentosa (arRP). We show here liquid chromatography electrospray mass spectrometric results from recombinant mutant CRALBP that were instrumental in establishing that the arRP modification was responsible for a loss of protein function. In addition, we present progress in the development of CRALBP knockout mice for studying in vivo functions and therapeutic approaches to retinal degenerations related to CRALBP.
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© 1999 Kluwer Academic / Plenum Publishers
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Kennedy, B.N., Saari, J.C., Crabb, J.W. (1999). CRALBP and Inherited Retinal Degeneration. In: Hollyfield, J.G., Anderson, R.E., LaVail, M.M. (eds) Retinal Degenerative Diseases and Experimental Therapy. Springer, Boston, MA. https://doi.org/10.1007/978-0-585-33172-0_5
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DOI: https://doi.org/10.1007/978-0-585-33172-0_5
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