Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca(2+)-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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Veröffentlicht in:Front Mol Neurosci
Hauptverfasser: Wimberg, Hanna, Lev, Dorit, Yosovich, Keren, Namburi, Prasanthi, Banin, Eyal, Sharon, Dror, Koch, Karl-Wilhelm
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2018
Schlagworte:
Molecular Neuroscience
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6167591/
https://ncbi.nlm.nih.gov/pubmed/30319355
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnmol.2018.00348
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