Associated Papers
The PRPH2 D2 Loop: Biochemical Insights and Implications in Disease.
Ikelle L et al.
Advances in Experimental Medicine and Biology, 2025
Comparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones.
Ikelle L et al.
Cellular and Molecular Life Sciences : Cmls, 2023
New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.
Wang Y et al.
International Journal of Molecular Sciences, 2023
The Role of Peripherin-2/ROM1 Complexes in Photoreceptor Outer Segment Disc Morphogenesis.
Lewis TR et al.
Advances in Experimental Medicine and Biology, 2023
Cryo-EM structures of peripherin-2 and ROM1 suggest multiple roles in photoreceptor membrane morphogenesis.
El Mazouni D et al.
Science Advances, 2022
Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2.
Conley SM et al.
Investigative Ophthalmology & Visual Science, 2022
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
Peeters MHCA et al.
Human Mutation, 2021
Photoreceptor Disc Enclosure Is Tightly Controlled by Peripherin-2 Oligomerization.
Lewis TR et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021
The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases.
Tebbe L et al.
Cells, 2020
Novel molecular mechanisms for Prph2-associated pattern dystrophy.
Chakraborty D et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
Photoreceptor Disc Enclosure Occurs in the Absence of Normal Peripherin-2/rds Oligomerization.
Lewis TR et al.
Frontiers in Cellular Neuroscience, 2020
A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree.
Cheng J et al.
Journal of Cellular and Molecular Medicine, 2019
Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation.
Zulliger R et al.
Human Molecular Genetics, 2018
Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.
Conley SM et al.
Human Molecular Genetics, 2017
The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function.
Chakraborty D et al.
Human Molecular Genetics, 2016
Peripherin-2 differentially interacts with cone opsins in outer segments of cone photoreceptors.
Nguyen ON et al.
Human Molecular Genetics, 2016
PRPH2/RDS and ROM-1: Historical context, current views and future considerations.
Stuck MW et al.
Progress in Retinal and Eye Research, 2016
Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia.
Schön C et al.
Human Molecular Genetics, 2016
Retinal Degeneration Slow (RDS) Glycosylation Plays a Role in Cone Function and in the Regulation of RDS·ROM-1 Protein Complex Formation.
Stuck MW et al.
The Journal of Biological Chemistry, 2015
SNAREs Interact with Retinal Degeneration Slow and Rod Outer Segment Membrane Protein-1 during Conventional and Unconventional Outer Segment Targeting.
Zulliger R et al.
Plos One, 2015
Structural characterization of the second intra-discal loop of the photoreceptor tetraspanin RDS.
Chakraborty D et al.
The Febs Journal, 2013
Targeted knockdown of Cerkl, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer.
Garanto A et al.
Biochimica Et Biophysica Acta, 2012
Structural and functional relationships between photoreceptor tetraspanins and other superfamily members.
Conley SM et al.
Cellular and Molecular Life Sciences : Cmls, 2012
Mislocalization of oligomerization-incompetent RDS is associated with mislocalization of cone opsins and cone transducin.
Conley SM et al.
Advances in Experimental Medicine and Biology, 2012
Differences in RDS trafficking, assembly and function in cones versus rods: insights from studies of C150S-RDS.
Chakraborty D et al.
Human Molecular Genetics, 2010
Biochemical analysis of phenotypic diversity associated with mutations in codon 244 of the retinal degeneration slow gene.
Conley SM et al.
Biochemistry, 2010
Differential requirements for retinal degeneration slow intermolecular disulfide-linked oligomerization in rods versus cones.
Chakraborty D et al.
Human Molecular Genetics, 2009
Outer segment oligomerization of Rds: evidence from mouse models and subcellular fractionation.
Chakraborty D et al.
Biochemistry, 2008
Role of subunit assembly in autosomal dominant retinitis pigmentosa linked to mutations in peripherin 2.
Molday RS et al.
Novartis Foundation Symposium, 2004
The role of subunit assembly in peripherin-2 targeting to rod photoreceptor disk membranes and retinitis pigmentosa.
Loewen CJ et al.
Molecular Biology of the Cell, 2003
Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa.
Loewen CJ et al.
The Journal of Biological Chemistry, 2001
Peripherin/rds influences membrane vesicle morphology. Implications for retinopathies.
Wrigley JD et al.
The Journal of Biological Chemistry, 2000