Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1.
about
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.Synaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant miceTetraspanins in viral infections: a fundamental role in viral biology?Folding and subunit assembly of photoreceptor peripherin/rds is mediated by determinants within the extracellular/intradiskal EC2 domain: implications for heterogeneous molecular pathologies.A monogenic dominant mutation in Rom1 generated by N-ethyl-N-nitrosourea mutagenesis causes retinal degeneration in miceSometimes the result is not the answer: the truths and the lies that come from using the complementation testQuantitative Fundus Autofluorescence and Optical Coherence Tomography in PRPH2/RDS- and ABCA4-Associated Disease Exhibiting Phenotypic Overlap.Management of inherited outer retinal dystrophies: present and future.Role of the second intradiscal loop of peripherin/rds in homo and hetero associations.Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants.Saturation of the human phenomeDisulfide-mediated oligomerization of Peripherin/Rds and Rom-1 in photoreceptor disk membranes. Implications for photoreceptor outer segment morphogenesis and degeneration.Uncoupling of photoreceptor peripherin/rds fusogenic activity from biosynthesis, subunit assembly, and targeting: a potential mechanism for pathogenic effects.The complexities of ocular genetics.The role of subunit assembly in peripherin-2 targeting to rod photoreceptor disk membranes and retinitis pigmentosa.The tetraspanin protein peripherin-2 forms a complex with melanoregulin, a putative membrane fusion regulatorThe role of inflammation in the pathogenesis of age-related macular degeneration.Varying the GARP2-to-RDS Ratio Leads to Defects in Rim Formation and Rod and Cone Function.Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosaWhole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.PRPH2/RDS and ROM-1: Historical context, current views and future considerations.Structural characterization of the second intra-discal loop of the photoreceptor tetraspanin RDSWhirler mutant hair cells have less severe pathology than shaker 2 or double mutants.Membrane curvature generation by a C-terminal amphipathic helix in peripherin-2/rds, a tetraspanin required for photoreceptor sensory cilium morphogenesisOuter segment oligomerization of Rds: evidence from mouse models and subcellular fractionation.Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.Analysis of the CD151-alpha3beta1 integrin and CD151-tetraspanin interactions by mutagenesis.Heterologous expression of WT and mutant photoreceptor peripherin/rds in Madin Darby canine kidney cells: an assessment of fusogenic function.Genetic modifiers and oligogenic inheritance.Molecular basis for photoreceptor outer segment architecture.Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function.Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa.Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.The Cys214-->Ser mutation in peripherin/rds causes a loss-of-function phenotype in transgenic miceROM-1 potentiates photoreceptor specific membrane fusion processes.A peptide analogue to a fusion domain within photoreceptor peripherin/rds promotes membrane adhesion and depolarization.Characterization of antibody against the N-terminus of RDS/peripherin.An inducible amphipathic helix within the intrinsically disordered C terminus can participate in membrane curvature generation by peripherin-2/rds.
P2860
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P2860
Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Defective subunit assembly und ...... s in peripherin/rds and rom-1.
@ast
Defective subunit assembly und ...... s in peripherin/rds and rom-1.
@en
type
label
Defective subunit assembly und ...... s in peripherin/rds and rom-1.
@ast
Defective subunit assembly und ...... s in peripherin/rds and rom-1.
@en
prefLabel
Defective subunit assembly und ...... s in peripherin/rds and rom-1.
@ast
Defective subunit assembly und ...... s in peripherin/rds and rom-1.
@en
P2860
P356
P1476
Defective subunit assembly und ...... s in peripherin/rds and rom-1.
@en
P2093
A F Goldberg
R S Molday
P2860
P304
13726-13730
P356
10.1073/PNAS.93.24.13726
P407
P577
1996-11-01T00:00:00Z