Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
J Reiners, K Nagel-Wolfrum, K Jürgens, T Märker… - Experimental eye …, 2006 - Elsevier
Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. It is
clinically and genetically heterogeneous and at least 12 chromosomal loci are assigned to …
clinically and genetically heterogeneous and at least 12 chromosomal loci are assigned to …
An update on the genetics of usher syndrome
JM Millán, E Aller, T Jaijo, F Blanco-Kelly… - Journal of …, 2011 - Wiley Online Library
Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss,
retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and …
retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and …
Cyclic nucleotide-gated channels
M Biel, S Michalakis - cGMP: generators, effectors and therapeutic …, 2009 - Springer
Cyclic nucleotide-gated (CNG) channels are ion channels which are activated by the
binding of cGMP or cAMP. The channels are important cellular switches which transduce …
binding of cGMP or cAMP. The channels are important cellular switches which transduce …
Small‐interfering RNA s (siRNA s) as a promising tool for ocular therapy
A Guzman‐Aranguez, P Loma… - British journal of …, 2013 - Wiley Online Library
RNA interference (RNAi) can be used to inhibit the expression of specific genes in vitro and
in vivo, thereby providing an extremely useful tool for investigating gene function. Progress …
in vivo, thereby providing an extremely useful tool for investigating gene function. Progress …
In vivo genome editing rescues photoreceptor degeneration via a Cas9/RecA-mediated homology-directed repair pathway
Although Cas9-mediated genome editing has been widely used to engineer alleles in
animal models of human inherited diseases, very few homology-directed repair (HDR) …
animal models of human inherited diseases, very few homology-directed repair (HDR) …
[HTML][HTML] Gene delivery to mitotic and postmitotic photoreceptors via compacted DNA nanoparticles results in improved phenotype in a mouse model of retinitis …
X Cai, SM Conley, Z Nash, SJ Fliesler… - The FASEB …, 2010 - ncbi.nlm.nih.gov
The purpose of the present study was to test the therapeutic efficiency and safety of
compacted-DNA nanoparticle-mediated gene delivery into the subretinal space of a juvenile …
compacted-DNA nanoparticle-mediated gene delivery into the subretinal space of a juvenile …
[HTML][HTML] Pre-mRNA splicing and retinitis pigmentosa
Retinitis pigmentosa (RP) is a group of genetically and clinically heterogeneous retinal
diseases and a common cause of blindness. Among the 12 autosomal dominant RP (adRP) …
diseases and a common cause of blindness. Among the 12 autosomal dominant RP (adRP) …
Retinal cyclic nucleotide-gated channels: from pathophysiology to therapy
S Michalakis, E Becirovic, M Biel - International Journal of Molecular …, 2018 - mdpi.com
The first step in vision is the absorption of photons by the photopigments in cone and rod
photoreceptors. After initial amplification within the phototransduction cascade the signal is …
photoreceptors. After initial amplification within the phototransduction cascade the signal is …
Light in retinitis pigmentosa
A Kennan, A Aherne, P Humphries - Trends in genetics, 2005 - cell.com
Retinitis pigmentosa (RP) is one of the most genetically heterogeneous inherited disorders.
Twelve genes have now been identified in the autosomal dominant form of the disease …
Twelve genes have now been identified in the autosomal dominant form of the disease …
Significant photoreceptor rescue by treatment with a combination of antioxidants in an animal model for retinal degeneration
MM Sanz, LE Johnson, S Ahuja, PAR Ekström… - Neuroscience, 2007 - Elsevier
The purpose of this study was to investigate the presence of oxidative DNA damage in the
photoreceptors of the rd1 mouse, an animal model for retinitis pigmentosa, and to determine …
photoreceptors of the rd1 mouse, an animal model for retinitis pigmentosa, and to determine …