The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases

scientific article published on 24 March 2020

The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.3390/CELLS9030784
P932PMC publication ID7140794
P698PubMed publication ID32213850

P2093author name stringMuna I Naash
Muayyad R Al-Ubaidi
Mashal Kakakhel
Lars Tebbe
Mustafa S Makia
P2860cites workCloning of the CDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathiesQ24315746
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in miceQ24316871
Specific tetraspanin functionsQ24652356
Ciliary Extracellular Vesicles: Txt Msg OrganellesQ26764992
The effect of peripherin/rds haploinsufficiency on rod and cone photoreceptors.Q50526833
An inducible amphipathic helix within the intrinsically disordered C terminus can participate in membrane curvature generation by peripherin-2/rds.Q51091580
Curvature-induced accumulation of anisotropic membrane components and raft formation in cylindrical membrane protrusions.Q51323734
Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis.Q52168499
Disc morphogenesis in vertebrate photoreceptors.Q52298894
Peripherin-2 couples rhodopsin to the CNG channel in outer segments of rod photoreceptors.Q52651346
Peripherin/rds influences membrane vesicle morphology. Implications for retinopathies.Q52864280
Prph2 initiates outer segment morphogenesis but maturation requires Prph2/Rom1 oligomerizationQ57283997
Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formationQ57463077
Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS GeneQ57785269
Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vectorQ59354224
Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy.Q64897845
Rods and cones in the mouse retina. I. Structural analysis using light and electron microscopyQ66961732
Fine structure and radioautography of rabbit photoreceptor cellsQ67265773
Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) miceQ67545786
Peripherin. A rim-specific membrane protein of rod outer segment discsQ68983119
Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophyQ71004413
Subunit composition of the peripherin/rds-rom-1 disk rim complex from rod photoreceptors: hydrodynamic evidence for a tetrameric quaternary structureQ71087313
A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosaQ72617807
Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow geneQ72759934
Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin geneQ73018450
Generation and analysis of transgenic mice expressing P216L-substituted rds/peripherin in rod photoreceptorsQ73089245
Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 familiesQ73109832
CD63 associates with CD11/CD18 in large detergent-resistant complexes after translocation to the cell surface in human neutrophilsQ73526054
Cysteine residues of photoreceptor peripherin/rds: role in subunit assembly and autosomal dominant retinitis pigmentosaQ74024110
Transgenic analysis of rds/peripherin N-glycosylation: effect on dimerization, interaction with rom1, and rescue of the rds null phenotypeQ77786799
Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin geneQ78014954
Tetraspanins shape the synapseQ88308116
Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophyQ90768380
Novel molecular mechanisms for Prph2-associated pattern dystrophyQ92499140
Further studies on the question of the patency of saccules in outer segments of vertebrate photoreceptorsQ93694440
C. elegans ciliated sensory neurons release extracellular vesicles that function in animal communicationQ27316918
Comparative analysis of DNA nanoparticles and AAVs for ocular gene deliveryQ27325842
A partial structural and functional rescue of a retinitis pigmentosa model with compacted DNA nanoparticlesQ27349737
CD81 extracellular domain 3D structure: insight into the tetraspanin superfamily structural motifs.Q27473055
AC133, a novel marker for human hematopoietic stem and progenitor cellsQ28115893
The cGMP-gated channel and related glutamic acid-rich proteins interact with peripherin-2 at the rim region of rod photoreceptor disc membranesQ28201043
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosaQ28252073
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS geneQ28268699
Tetraspanin functions and associated microdomainsQ28284176
Three-dimensional architecture of the rod sensory cilium and its disruption in retinal neurodegenerationQ28505955
Prominin, a novel microvilli-specific polytopic membrane protein of the apical surface of epithelial cells, is targeted to plasmalemmal protrusions of non-epithelial cellsQ28585056
A frameshift mutation in prominin (mouse)-like 1 causes human retinal degenerationQ28587000
Loss of the cholesterol-binding protein prominin-1/CD133 causes disk dysmorphogenesis and photoreceptor degenerationQ28592002
Nrl is required for rod photoreceptor developmentQ28595099
Structural and functional relationships between photoreceptor tetraspanins and other superfamily membersQ28742243
Centrioles and the formation of rudimentary cilia by fibroblasts and smooth muscle cellsQ29620499
Uni-directional ciliary membrane protein trafficking by a cytoplasmic retrograde IFT motor and ciliary ectosome sheddingQ30407427
Differential requirements for retinal degeneration slow intermolecular disulfide-linked oligomerization in rods versus conesQ30485964
Evaluation of prototype transmembrane 4 superfamily protein complexes and their relation to lipid raftsQ31672539
Ocular delivery of compacted DNA-nanoparticles does not elicit toxicity in the mouse retinaQ33510137
Evolution of cysteine patterns in the large extracellular loop of tetraspanins from animals, fungi, plants and single-celled eukaryotesQ33532859
Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.Q33649255
Role of the second intradiscal loop of peripherin/rds in homo and hetero associationsQ33662611
Initiation of rod outer segment disc formation requires RDS.Q33712465
Gene delivery to mitotic and postmitotic photoreceptors via compacted DNA nanoparticles results in improved phenotype in a mouse model of retinitis pigmentosaQ33752902
Disulfide-mediated oligomerization of Peripherin/Rds and Rom-1 in photoreceptor disk membranes. Implications for photoreceptor outer segment morphogenesis and degenerationQ33890711
Rim formation is not a prerequisite for distribution of cone photoreceptor outer segment proteins.Q33913251
Modulating expression of peripherin/rds in transgenic mice: critical levels and the effect of overexpressionQ34119855
Implications of lipid microdomains for membrane curvature, budding and fissionQ34309080
Differences in RDS trafficking, assembly and function in cones versus rods: insights from studies of C150S-RDSQ34341141
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 lociQ34342489
An unconventional secretory pathway mediates the cilia targeting of peripherin/rdsQ37479554
Tetraspanins at a glance.Q38240344
Fusion between retinal rod outer segment membranes and model membranes: a role for photoreceptor peripherin/rdsQ38551306
An Actin Network Dispatches Ciliary GPCRs into Extracellular Vesicles to Modulate Signaling.Q38724382
Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosaQ39039992
Cilia - The sensory antennae in the eye.Q39306524
The K153Del PRPH2 mutation differentially impacts photoreceptor structure and functionQ39732823
Mammalian cones: disc shedding, phagocytosis, and renewalQ39873893
Late-onset cone photoreceptor degeneration induced by R172W mutation in Rds and partial rescue by gene supplementationQ40147345
Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy.Q40869164
Molecular cloning, membrane topology, and localization of bovine rom-1 in rod and cone photoreceptor cells.Q41234959
The Cys214-->Ser mutation in peripherin/rds causes a loss-of-function phenotype in transgenic miceQ41839026
Long-term rescue of retinal structure and function by rhodopsin RNA replacement with a single adeno-associated viral vector in P23H RHO transgenic mice.Q42003725
Development and degeneration of retina in rds mutant mice: electron microscopyQ42461875
Dynamic Remodeling of Membrane Composition Drives Cell Cycle through Primary Cilia ExcisionQ42504214
Knockout of GARPs and the β-subunit of the rod cGMP-gated channel disrupts disk morphogenesis and rod outer segment structural integrity.Q42563167
Suppression of rds expression by siRNA and gene replacement strategies for gene therapy using rAAV vector.Q42708598
Photoreceptor discs form through peripherin-dependent suppression of ciliary ectosome releaseQ43098291
Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.Q43216890
Butterfly-shaped pattern dystrophy: a genetic, clinical, and histopathological reportQ43948283
Intraflagellar transport proteins in ciliogenesis of photoreceptor cellsQ44021008
Peripherin/rds fusogenic function correlates with subunit assemblyQ44076877
Long-term evaluation of retinal function in Prph2Rd2/Rd2 mice following AAV-mediated gene replacement therapyQ44569755
The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic miceQ44978539
RNAi-based suppression and replacement of rds-peripherin in retinal organotypic cultureQ46898530
A novel five-transmembrane hematopoietic stem cell antigen: isolation, characterization, and molecular cloningQ48041391
Tetraspanins.Q34385526
The tetraspanin web modulates immune-signalling complexesQ34390403
Gene therapy for PRPH2-associated ocular disease: challenges and prospectsQ34400262
Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.Q34442339
The Y141C knockin mutation in RDS leads to complex phenotypes in the mouseQ34463210
Molecular interactions shaping the tetraspanin web.Q34557947
Functional domains in tetraspanin proteinsQ35063179
In situ visualization of protein interactions in sensory neurons: glutamic acid-rich proteins (GARPs) play differential roles for photoreceptor outer segment scaffoldingQ35172387
Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS geneQ35185818
Tetraspanin Proteins Mediate Cellular Penetration, Invasion, and Fusion Events and Define a Novel Type of Membrane MicrodomainQ35564822
Genetic and phenotypic heterogeneity in pattern dystrophyQ35593568
SNAREs Interact with Retinal Degeneration Slow and Rod Outer Segment Membrane Protein-1 during Conventional and Unconventional Outer Segment TargetingQ35788032
Prominin-1 localizes to the open rims of outer segment lamellae in Xenopus laevis rod and cone photoreceptorsQ35797262
Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouseQ35861721
Direct gene transfer with compacted DNA nanoparticles in retinal pigment epithelial cells: expression, repeat delivery and lack of toxicityQ36116299
Retention of function without normal disc morphogenesis occurs in cone but not rod photoreceptorsQ36117350
DNA nanoparticle-mediated ABCA4 delivery rescues Stargardt dystrophy in mice.Q36190772
High-Resolution Adaptive Optics Retinal Image Analysis at Early Stage Central Areolar Choroidal Dystrophy With PRPH2 MutationQ36225380
Discs of mammalian rod photoreceptors form through the membrane evagination mechanismQ36266164
Retinal Degeneration Slow (RDS) Glycosylation Plays a Role in Cone Function and in the Regulation of RDS·ROM-1 Protein Complex FormationQ36282945
Palmitoylation supports assembly and function of integrin-tetraspanin complexesQ36322840
Fusion between retinal rod outer segment membranes and model membranes: functional assays and role for peripherin/rdsQ36519858
Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosaQ36520157
Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degenerationQ36530871
Role of RDS and Rhodopsin in Cngb1-Related Retinal DegenerationQ36648914
PRPH2/RDS and ROM-1: Historical context, current views and future considerationsQ36829127
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS geneQ37105221
Protein sorting, targeting and trafficking in photoreceptor cellsQ37138123
Membrane curvature generation by a C-terminal amphipathic helix in peripherin-2/rds, a tetraspanin required for photoreceptor sensory cilium morphogenesisQ37226399
Nonviral ocular gene therapy: assessment and future directionsQ37284890
Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin geneQ37309913
Structural and functional analysis of the native peripherin-ROM1 complex isolated from photoreceptor cellsQ37404980
Outer segment oligomerization of Rds: evidence from mouse models and subcellular fractionationQ37457875
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue3
P577publication date2020-03-24
P1433published inCellsQ27724621
P1476titleThe Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases
P478volume9

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