The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors
about
RanBP2 modulates Cox11 and hexokinase I activities and haploinsufficiency of RanBP2 causes deficits in glucose metabolismIdentification and subcellular localization of the RP1 protein in human and mouse photoreceptorsNephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulinSpata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaMutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeEvidence for RPGRIP1 gene as risk factor for primary open angle glaucomaThe role of RPGR in cilia formation and actin stabilityNull RPGRIP1 alleles in patients with Leber congenital amaurosis.RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteinsInteraction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaThe primary cilium as a cellular signaling center: lessons from diseaseLimited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosisIdentification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localizationThe role of primary cilia in the development and disease of the retinaRPGRIP1 and cone-rod dystrophy in dogsScrutinizing ciliopathies by unraveling ciliary interaction networksThe Role of RPGR and Its Interacting Proteins in CiliopathiesUpdate on the molecular genetics of retinitis pigmentosaAblation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary compositionInteraction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degenerationRetinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting ciliumOverexpression of RPGR leads to male infertility in mice due to defects in flagellar assemblyPredose and Postdose Blood Gene Expression Profiles Identify the Individuals Susceptible to Acetaminophen-Induced Liver Injury in RatsThe retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesisStructural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoformsSuccessful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy.Network-based bioinformatics analysis of spatio-temporal RNA-Seq data reveals transcriptional programs underpinning normal and aberrant retinal development.Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3Nephronophthisis: disease mechanisms of a ciliopathy.Global developmental gene expression and pathway analysis of normal brain development and mouse models of human neuronal migration defectsPolymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis.Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.The genetics of eye disorders in the dogMultiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy.The complexities of ocular genetics.Mutations of RPGR in X-linked retinitis pigmentosa (RP3).The cyclophilin-like domain of Ran-binding protein-2 modulates selectively the activity of the ubiquitin-proteasome system and protein biogenesis.
P2860
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P2860
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors
description
2000 nî lūn-bûn
@nan
2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
The retinitis pigmentosa GTPas ...... segments of rod photoreceptors
@ast
The retinitis pigmentosa GTPas ...... segments of rod photoreceptors
@en
The retinitis pigmentosa GTPas ...... segments of rod photoreceptors
@nl
type
label
The retinitis pigmentosa GTPas ...... segments of rod photoreceptors
@ast
The retinitis pigmentosa GTPas ...... segments of rod photoreceptors
@en
The retinitis pigmentosa GTPas ...... segments of rod photoreceptors
@nl
prefLabel
The retinitis pigmentosa GTPas ...... segments of rod photoreceptors
@ast
The retinitis pigmentosa GTPas ...... segments of rod photoreceptors
@en
The retinitis pigmentosa GTPas ...... segments of rod photoreceptors
@nl
P2093
P3181
P356
P1476
The retinitis pigmentosa GTPas ...... segments of rod photoreceptors
@en
P2093
D E Schick
F P Cremers
H H Ropers
N Bernoud-Hubac
P A Ferreira
P304
P3181
P356
10.1093/HMG/9.14.2095
P407
P577
2000-09-01T00:00:00Z