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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Peripherin 2

RD2, peripherin-2, Prph2
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAD, Peripherin, CAN, ROD, Rhodopsin
Papers on RD2
Pharmacokinetic Properties of a Novel D-Peptide Developed to be Therapeutically Active Against Toxic β-Amyloid Oligomers.
New
Willbold et al., Jülich, Germany. In Pharm Res, Feb 2016
Here, we analysed the pharmacokinetic properties of RD2, a rationally designed and potent D3 derivative.
PRPH2/RDS and ROM-1: historical context, current views and future considerations.
Review
New
Naash et al., Oklahoma City, United States. In Prog Retin Eye Res, Feb 2016
UNASSIGNED: Peripherin2 (PRPH2), also known as RDS (retinal degeneration slow) is a photoreceptor specific glycoprotein which is essential for normal photoreceptor health and vision.
Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.
New
Zhang et al., In Invest Ophthalmol Vis Sci, Jan 2016
Of the 71 probands, 44 (62.0%) had mutations in 11 genes responsible for ocular diseases accompanied by high myopia, including COL2A1, COL11A1, PRPH2, FBN1, GNAT1, OPA1, PAX2, GUCY2D, TSPAN12, CACNA1F, and RPGR.
Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.
New
Koenekoop et al., Montréal, Canada. In Invest Ophthalmol Vis Sci, Jan 2016
Eleven (46%) of these mutations were in RHO, four mutations (17%) were found in SNRNP200, three mutations (12.5%) in PRPH2/RDS, three mutations (12.5%) in TOPORS, two mutations (8%) in PRPF31, and one mutation (4%) in IMPDH1.
Screening putative antigens as stimulators in the Mycobacterium bovis interferon-gamma release assay for cattle.
New
Jiao et al., Yangzhou, China. In Vet Immunol Immunopathol, Dec 2015
A CFP-10-ESAT-6 fusion protein (abbreviated CE) displayed the greatest potential, whereas four region of difference 2 (RD2) antigens, especially Rv1985c were identified as potential candidate antigens, and can be included in an IGRA cocktail, together with CE as stimulators in the IFN-γ release assay for the diagnosis of BTB.
Retinal Degeneration Slow (RDS) Glycosylation Plays a Role in Cone Function and in the Regulation of RDS·ROM-1 Protein Complex Formation.
New
Naash et al., Oklahoma City, United States. In J Biol Chem, Dec 2015
The photoreceptor-specific glycoprotein retinal degeneration slow (RDS, also called PRPH2) is necessary for the formation of rod and cone outer segments.
Adult-onset foveomacular vitelliform dystrophy: A fresh perspective.
Review
New
Boon et al., Jerusalem, Israel. In Prog Retin Eye Res, Jul 2015
A minority of AFVD patients have a mutation in the PRPH2, BEST1, IMPG1, or IMPG2 genes.
New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.
Carballo et al., Barcelona, Spain. In Mol Vis, 2014
We used a newly devised multiplex PCR assay capable of amplifying the genetic loci of RHO, PRPH2, RP1, PRPF3, PRPF8, PRPF31, IMPDH1, NRL, CRX, KLHL7, and NR2E3 to molecularly diagnose 18 index patients with adRP.
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
Ayuso et al., Philadelphia, United States. In Plos One, 2014
SNV and indel analysis led to the identification of a previously reported mutation in PRPH2.
SNAREs Interact with Retinal Degeneration Slow and Rod Outer Segment Membrane Protein-1 during Conventional and Unconventional Outer Segment Targeting.
Naash et al., Oklahoma City, United States. In Plos One, 2014
Mutations in the photoreceptor protein peripherin-2 (also known as RDS) cause severe retinal degeneration.
Gene therapy for PRPH2-associated ocular disease: challenges and prospects.
Review
Naash et al., Oklahoma City, United States. In Cold Spring Harb Perspect Med, 2014
The peripherin-2 (PRPH2) gene encodes a photoreceptor-specific tetraspanin protein called peripherin-2/retinal degeneration slow (RDS), which is critical for the formation and maintenance of rod and cone outer segments.
Gender dysphoria associated with disorders of sex development.
Review
Barroso et al., Salvador, Brazil. In Nat Rev Urol, 2012
Patients with 5α-reductase 2 (5α-RD2) and 17β-hydroxysteroid dehydrogenase 3 (17β-HSD3) deficiencies exhibit the highest rates of gender dysphoria (incidence of up to 63%).
DSD due to 5α-reductase 2 deficiency - from diagnosis to long term outcome.
Review
Mendonca et al., São Paulo, Brazil. In Semin Reprod Med, 2012
Steroid 5α-RD2 deficiency should be included in the differential diagnosis of all newborns with 46,XY DSD with normal testosterone production before gender assignment or any surgical intervention because these patients should be considered males at birth.
Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2.
GeneRIF
Michaelides et al., London, United Kingdom. In Br J Ophthalmol, 2012
Molecular screening of the candidate genes BEST1 and PRPH2 revealed no mutations.
Mislocalization of oligomerization-incompetent RDS is associated with mislocalization of cone opsins and cone transducin.
GeneRIF
Naash et al., Oklahoma City, United States. In Adv Exp Med Biol, 2011
Oligomerization incompetent retinal degeneration slow is associated with mislocalization of cone opsins and cone transducin.
Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.
GeneRIF
Hamel et al., Montpellier, France. In Ophthalmology, 2011
PRPH2 screening should be recommended to patients with an age of onset more than 40 years. For an onset between 30 and 40 years, PRPH2 can be screened if no mutation has been detected in BEST1.
Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.
GeneRIF
Roorda et al., San Francisco, United States. In Invest Ophthalmol Vis Sci, 2011
peripherin/RDS mutations produced diffuse AF abnormalities, disruption of the photoreceptor/RPE junction, and increased cone spacing, consistent with cone loss in the macula.
Differences in RDS trafficking, assembly and function in cones versus rods: insights from studies of C150S-RDS.
GeneRIF
Naash et al., Oklahoma City, United States. In Hum Mol Genet, 2011
These data highlight significant differences in assembly, trafficking and function of RDS in rods versus cones.
Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy.
Impact
Thrasher et al., London, United Kingdom. In Nat Genet, 2000
A common feature of these diseases is the loss of photoreceptor function, also seen in the retinal degeneration slow (rds or Prph2 Rd2/Rd2) mouse, which is homozygous for a null mutation in Prph2.
Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis.
Impact
McInnes et al., Toronto, Canada. In Nat Genet, 2000
Although peripherin-2 is known to be required for OS formation (because Prph2-/- mice do not form OSs; ref. 6), and mutations in RDS (the human homologue of Prph2) cause retinal degeneration, the relationship of Rom-1 to these processes is uncertain.
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