Retinal degeneration associated with RDH12 mutations results from decreased 11- cis retinal synthesis due to disruption of the visual cycle-Reference-Cited by-同舟云学术

Retinal degeneration associated with RDH12 mutations results from decreased 11- cis retinal synthesis due to disruption of the visual cycle

Published:2005-11-03 Issue:24 Volume:14 Page:3865-3875
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Thompson Debra A.,Janecke Andreas R.,Lange Jessica,Feathers Kecia L.,Hübner Christian A.,McHenry Christina L.,Stockton David W.,Rammesmayer Gabriele,Lupski James R.,Antinolo Guillermo,Ayuso Carmen,Baiget Montserrat,Gouras Peter,Heckenlively John R.,den Hollander Anneke,Jacobson Samuel G.,Lewis Richard A.,Sieving Paul A.,Wissinger Bernd,Yzer Suzanne,Zrenner Eberhart,Utermann Gerd,Gal Andreas

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/14/24/3865/6949537/ddi411.pdf

Reference40 articles.

1. Saari, J.C. ( 2000 ) Biochemistry of visual pigment regeneration: the Friedenwald lecture. Invest. Ophthalmol. Vis. Sci. , 41 , 337 –348.

2. Haeseleer, F., Jang, G.F., Imanishi, Y., Driessen, C.A., Matsumura, M., Nelson, P.S. and Palczewski, K. ( 2002 ) Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina. J. Biol. Chem. , 277 , 45537 –45546.

3. Belyaeva, O.V., Korkina, O.V., Stetsenko, A.V., Kim, T., Nelson, P.S. and Kedishvili, N.Y. ( 2005 ) Biochemical properties of purified human retinol dehydrogenase 12 (RDH12): catalytic efficiency toward retinoids and C9 aldehydes and effects of cellular retinol-binding protein type I (CRBPI) and cellular retinaldehyde-binding protein (CRALBP) on the oxidation and reduction of retinoids. Biochemistry , 44 , 7035 –7047.

4. Janecke, A.R., Thompson, D.A., Utermann, G., Becker, C., Hubner, C.A., Schmid, E., McHenry, C.L., Nair, A.R., Ruschendorf, F., Heckenlively, J. et al. ( 2004 ) Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat. Genet. , 36 , 850 –854.

5. Perrault, I., Hanein, S., Gerber, S., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Dufier, J.L., Munnich, A., Kaplan, J. et al. ( 2004 ) Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis. Am. J. Hum. Genet. , 75 , 639 –646.

Cited by 90 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Report From the Second Global Scientific Conference on Clinical Trial Design and Outcome Measures for RDH12-Associated Inherited Retinal Degeneration;Translational Vision Science & Technology;2024-08-09

2. RDH12 allows cone photoreceptors to regenerate opsin visual pigments from a chromophore precursor to escape competition with rods;Current Biology;2024-08

3. Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort;Ophthalmology Retina;2024-02

4. Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease;Genome Medicine;2024-01-06

5. Primary versus Secondary Elevations in Fundus Autofluorescence;International Journal of Molecular Sciences;2023-08-02