Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis

Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis

Over 100 mutations in GUCY2D that encodes the photoreceptor guanylate cyclase GC-E are known to cause two major diseases: autosomal recessive Leber congenital amaurosis (arLCA) or autosomal dominant cone-rod dystrophy (adCRD) with a poorly understood mechanism at the molecular level in most cases. O...

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Bibliographic Details
Main Authors: Hanna Wimberg, Dorit Lev, Keren Yosovich, Prasanthi Namburi, Eyal Banin, Dror Sharon, Karl-Wilhelm Koch
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-09-01
Series:Frontiers in Molecular Neuroscience
Subjects:
GUCY2D mutation
Leber congenital amaurosis
cone-rod dystrophy
guanylate cyclase
RD3 protein
GCAP
Online Access:https://www.frontiersin.org/article/10.3389/fnmol.2018.00348/full

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https://www.frontiersin.org/article/10.3389/fnmol.2018.00348/full

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