Associated Papers
A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase.
Biasi A et al.
International Journal of Molecular Sciences, 2021
Impaired Ca2+ Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells.
Marino V et al.
International Journal of Molecular Sciences, 2021
Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy.
Gill JS et al.
The British Journal of Ophthalmology, 2019
Functional characterization of a novel GUCA1A missense mutation (D144G) in autosomal dominant cone dystrophy: A novel pathogenic GUCA1A variant in COD.
Tang S et al.
Molecular Vision, 2019
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.
Wawrocka A et al.
Molecular Vision, 2018
Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.
Manes G et al.
Molecular Vision, 2017
Functional EF-hands in neuronal calcium sensor GCAP2 determine its phosphorylation state and subcellular distribution in vivo, and are essential for photoreceptor cell integrity.
Hoyo NL et al.
Plos Genetics, 2014
RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations.
Jiang L et al.
Frontiers in Molecular Neuroscience, 2014
Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy.
Huang L et al.
Neuroscience Letters, 2013
RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse model.
Jiang L et al.
Plos One, 2013
Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.
Kamenarova K et al.
Biomed Research International, 2013
Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene.
Buch PK et al.
Plos One, 2011
Involvement of the calcium sensor GCAP1 in hereditary cone dystrophies.
Behnen P et al.
Biological Chemistry, 2010
Guanylate cyclases and associated activator proteins in retinal disease.
Hunt DM et al.
Molecular and Cellular Biochemistry, 2010
GCAP1 mutations associated with autosomal dominant cone dystrophy.
Jiang L et al.
Advances in Experimental Medicine and Biology, 2010
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.
Kitiratschky VB et al.
Human Mutation, 2009
A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.
Jiang L et al.
Vision Research, 2008
Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).
Jiang L et al.
Molecular Vision, 2005