Novel molecular mechanisms for Prph2‐associated pattern dystrophy

Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation

(2018) Rahel Zulliger et al.   HUMAN MOLECULAR GENETICS

Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly)

(2018) Satoshi Katagiri et al.   OPHTHALMIC GENETICS

The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function

(2016) Dibyendu Chakraborty et al.   HUMAN MOLECULAR GENETICS

PRPH2/RDS and ROM-1: Historical context, current views and future considerations

(2016) Michael W. Stuck et al.   PROGRESS IN RETINAL AND EYE RESEARCH

High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features

(2015) Gaël Manes et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Retinal Degeneration Slow (RDS) Glycosylation Plays a Role in Cone Function and in the Regulation of RDS·ROM-1 Protein Complex Formation

(2015) Michael W. Stuck et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Endoplasmic reticulum stress and the unfolded protein responses in retinal degeneration

(2014) Sarah X. Zhang et al.   EXPERIMENTAL EYE RESEARCH

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

(2014) Elvir Becirovic et al.   HUMAN MOLECULAR GENETICS

Genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model of Leber congenital amaurosis

(2014) Tao Zhang et al.   HUMAN MOLECULAR GENETICS

The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse

(2014) Michael W. Stuck et al.   HUMAN MOLECULAR GENETICS

Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS

(2014) S. M. Conley et al.   HUMAN MOLECULAR GENETICS

Initiation of Rod Outer Segment Disc Formation Requires RDS

(2014) Dibyendu Chakraborty et al.   PLoS One

Gene Therapy for PRPH2-Associated Ocular Disease: Challenges and Prospects

(2014) S. M. Conley et al.   Cold Spring Harbor Perspectives in Medicine

S/MAR-containing DNA nanoparticles promote persistent RPE gene expression and improvement in RPE65-associated LCA

(2013) Adarsha Koirala et al.   HUMAN MOLECULAR GENETICS

A Single Valine Residue Plays an Essential Role in Peripherin/rds Targeting to Photoreceptor Outer Segments

(2013) Raquel Y. Salinas et al.   PLoS One

Structural characterization of the second intra-discal loop of the photoreceptor tetraspanin RDS

(2012) Dibyendu Chakraborty et al.   FEBS Journal

PATTERN DYSTROPHY WITH HIGH INTRAFAMILIAL VARIABILITY ASSOCIATED WITH Y141C MUTATION IN THE PERIPHERIN/RDS GENE AND SUCCESSFUL TREATMENT OF SUBFOVEAL CNV RELATED TO MULTIFOCAL PATTERN TYPE WITH ANTI-VEGF (RANIBIZUMAB) INTRAVITREAL INJECTIONS

(2012) Veronika Vaclavik et al.   RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

Structural and functional relationships between photoreceptor tetraspanins and other superfamily members

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

In Situ Visualization of Protein Interactions in Sensory Neurons: Glutamic Acid-Rich Proteins (GARPs) Play Differential Roles for Photoreceptor Outer Segment Scaffolding

(2011) L. M. Ritter et al.   JOURNAL OF NEUROSCIENCE

Differences in RDS trafficking, assembly and function in cones versus rods: insights from studies of C150S-RDS

(2010) Dibyendu Chakraborty et al.   HUMAN MOLECULAR GENETICS

Trafficking of Membrane Proteins to Cone But Not Rod Outer Segments Is Dependent on Heterotrimeric Kinesin-II

(2009) P. Avasthi et al.   JOURNAL OF NEUROSCIENCE

A Partial Structural and Functional Rescue of a Retinitis Pigmentosa Model with Compacted DNA Nanoparticles

(2009) Xue Cai et al.   PLoS One

Outer Segment Oligomerization of Rds:  Evidence from Mouse Models and Subcellular Fractionation†

(2008) Dibyendu Chakraborty et al.   BIOCHEMISTRY

Differential requirements for retinal degeneration slow intermolecular disulfide-linked oligomerization in rods versus cones

(2008) Dibyendu Chakraborty et al.   HUMAN MOLECULAR GENETICS

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