Novel GUCY2D Variant (E843Q) at Mutation Hotspot Associated with Macular Dystrophy in a Japanese Patient
Author:
Affiliation:
1. Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital
2. Department of Ophthalmology, Nippon Medical School
Publisher
Medical Association of Nippon Medical School
Subject
General Medicine
Link
https://www.jstage.jst.go.jp/article/jnms/87/2/87_JNMS.2020_87-207/_pdf
Reference19 articles.
1. 1. Duda T, Venkataraman V, Goraczniak R, Lange C, Koch KW, Sharma RK. Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis. Biochemistry. 1999;38:509-15.
2. 2. Liu X, Seno K, Nishizawa Y, et al. Ultrastructural localization of retinal guanylate cyclase in human and monkey retinas. Exp Eye Res. 1994;59:761-8.
3. 3. Sharon D, Wimberg H, Kinarty Y, Koch KW. Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. Prog Retin Eye Res. 2018;63:69-91.
4. 4. Dizhoor AM, Olshevskaya EV, Peshenko IV. Mg2+/Ca2+ cation binding cycle of guanylyl cyclase activating proteins (GCAPs): role in regulation of photoreceptor guanylyl cyclase. Mol Cell Biochem. 2010;334:117-24.
5. 5. Koch KW, Dell'orco D. A calcium-relay mechanism in vertebrate phototransduction. ACS Chem Neurosci. 2013;4:909-17.
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