Nonsense Mutations in the ß Subunit Gene of the Rod cGMP Phosphodiesterase That are Associated with Inherited Retinal Degenerative Disease
作者： Richard L. Hurwitz , Steven J. Pittler , Michael L. Suber , Ning Qin , Rehwa H. Lee
DOI: 10.1007/978-1-4615-2974-3_25
关键词: Transducin 、 Biophysics 、 Retinal degeneration 、 Genetics 、 Visual phototransduction 、 GTP' 、 Phosphodiesterase 、 Retinitis pigmentosa 、 Chemistry 、 Retinal 、 Rhodopsin
摘要: The phototransduction cascade is the series of biochemical reactions through which a photon light results in decreased neurotransmitter release photoreceptor. Analogous but biochemically distinct pathways are responsible for both rod and cone phototransduction. 1 A photoisomerization rhodopsin from 11-cis retinal to all trans rod. This allows transducin exchange GTP GDP. activated complex can then inhibitory γ subunit cGMP phosphodiesterase (PDE) resulting concentration free cGMP. cGMP-gated cation channel closed decreasing sodium conductance hyperpolarizing
springer.com
sci-hub.st 参考文章(46)
W. Baehr, M.J. Devlin, M.L. Applebury, Isolation and characterization of cGMP phosphodiesterase from bovine rod outer segments. Journal of Biological Chemistry. ,vol. 254, pp. 11669- 11677 ,(1979) , 10.1016/S0021-9258(19)86536-5
M Danciger, C A Kozak, M M LaVail, C Bowes, D B Farber, Fine mapping of a putative rd cDNA and its co-segregation with rd expression. Investigative Ophthalmology & Visual Science. ,vol. 31, pp. 1427- 1432 ,(1990)
B. K.-K. Fung, B. M. Brown, R. H. Lee, S. E. Navon, R. N. Lolley, Characterization of a phosphodiesterase-immunoreactive polypeptide from rod photoreceptors of developing rd mouse retinas. Investigative Ophthalmology & Visual Science. ,vol. 29, pp. 1021- 1027 ,(1988)
Richard Hurwitz, B. S. Lieberman, R. H. Lee, R. N. Lolley, Phosphodiesterase-probes show distinct defects in rd mice and Irish setter dog disorders. Investigative Ophthalmology & Visual Science. ,vol. 26, pp. 1569- 1579 ,(1985)
D B Farber, J G Flannery, A C Bird, D Bok, Degenerative changes in a retina affected with autosomal dominant retinitis pigmentosa. Investigative Ophthalmology & Visual Science. ,vol. 30, pp. 191- 211 ,(1989)
RICHARD L. SIDMAN, MARGARET C. GREEN, RETINAL DEGENERATION IN THE MOUSE: LOCATION OF THE RD LOCUS IN LINKAGE GROUP XVII. Journal of Heredity. ,vol. 56, pp. 23- 29 ,(1965) , 10.1093/OXFORDJOURNALS.JHERED.A107364
Steven J. Pittler, James F. McGinnis, Wolfgang Baehr, Muayyad R. Al-Ubaidi, Mary S. Champagne, John T. Triantafyllos, Mouse opsin. Gene structure and molecular basis of multiple transcripts. Journal of Biological Chemistry. ,vol. 265, pp. 20563- 20569 ,(1990) , 10.1016/S0021-9258(17)30539-2
L. Stryer, Visual excitation and recovery Journal of Biological Chemistry. ,vol. 266, pp. 10711- 10714 ,(1991) , 10.1016/S0021-9258(18)99072-1
N Qin, S.J. Pittler, W Baehr, In vitro isoprenylation and membrane association of mouse rod photoreceptor cGMP phosphodiesterase alpha and beta subunits expressed in bacteria. Journal of Biological Chemistry. ,vol. 267, pp. 8458- 8463 ,(1992) , 10.1016/S0021-9258(18)42466-0
R L Hurwitz, A H Bunt-Milam, M L Chang, J A Beavo, cGMP phosphodiesterase in rod and cone outer segments of the retina. Journal of Biological Chemistry. ,vol. 260, pp. 568- 573 ,(1985) , 10.1016/S0021-9258(18)89770-8