In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors

Alternative Splicing Shapes the Phenotype of a Mutation inBBS8To Cause Nonsyndromic Retinitis Pigmentosa

(2015) Daniel Murphy et al.   MOLECULAR AND CELLULAR BIOLOGY

Peripherin-2 couples rhodopsin to the CNG channel in outer segments of rod photoreceptors

(2014) Elvir Becirovic et al.   HUMAN MOLECULAR GENETICS

Vector platforms for gene therapy of inherited retinopathies

(2014) Ivana Trapani et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Gene therapy restores vision and delays degeneration in the CNGB1-/- mouse model of retinitis pigmentosa

(2012) S. Koch et al.   HUMAN MOLECULAR GENETICS

Transcriptional code and disease map for adult retinal cell types

(2012) Sandra Siegert et al.   NATURE NEUROSCIENCE

A complex network of factors with overlapping affinities represses splicing through intronic elements

(2012) Yang Wang et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Intronic splicing enhancers, cognate splicing factors and context-dependent regulation rules

(2012) Yang Wang et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Structural and functional relationships between photoreceptor tetraspanins and other superfamily members

(2011) Shannon M. Conley et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Restoration of Cone Vision in the CNGA3−/− Mouse Model of Congenital Complete Lack of Cone Photoreceptor Function

(2010) Stylianos Michalakis et al.   MOLECULAR THERAPY

Phenotypic Variability and Long-term Follow-up of Patients With Known and Novel PRPH2/RDS Gene Mutations

(2008) Agnes B. Renner et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Usher syndrome type 1 due to missense mutations on bothCDH23 alleles: investigation of mRNA splicing

(2008) Elvir Becirovic et al.   HUMAN MUTATION

High-efficiency Transduction of the Mouse Retina by Tyrosine-mutant AAV Serotype Vectors

(2008) Hilda Petrs-Silva et al.   MOLECULAR THERAPY

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene

(2008) Camiel J.F. Boon et al.   PROGRESS IN RETINAL AND EYE RESEARCH