Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)
about
The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesteraseDelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafnessThe interplay between RPGR, PDEδ and Arl2/3 regulate the ciliary targeting of farnesylated cargoRPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteinsA fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaLimited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosisA retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).HERC3 binding to and regulation by ubiquitinMultiple phosphorylated isoforms of NRL are expressed in rod photoreceptorsMembrane-associated guanylate kinase proteins MPP4 and MPP5 associate with Veli3 at distinct intercellular junctions of the neurosensory retinaRetinitis 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 assemblyThe delta subunit of rod specific cyclic GMP phosphodiesterase, PDE delta, interacts with the Arf-like protein Arl3 in a GTP specific mannerRpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoformsStructural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoformsRd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15The complexities of ocular genetics.Mutations of RPGR in X-linked retinitis pigmentosa (RP3).Murine guanylate-binding protein: incomplete geranylgeranyl isoprenoid modification of an interferon-gamma-inducible guanosine triphosphate-binding proteinMisexpression of the constitutive Rpgr(ex1-19) variant leads to severe photoreceptor degeneration.A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degenerationRPGR: Its role in photoreceptor physiology, human disease, and future therapies.Stability and Safety of an AAV Vector for Treating RPGR-ORF15 X-Linked Retinitis Pigmentosa.Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanismsRPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies.Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutationsEvaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseasesHuman retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development.RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?Prenylation defects in inherited retinal diseases.The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options.Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.Population haplotypes of exon ORF15 of the retinitis pigmentosa GTPase regulator gene in Germany : implications for screening for inherited retinal disorders.Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.
P2860
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P2860
Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)
description
1998 nî lūn-bûn
@nan
1998 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Biochemical characterization a ...... ntosa GTPase regulator (mRpgr)
@ast
Biochemical characterization a ...... ntosa GTPase regulator (mRpgr)
@en
Biochemical characterization a ...... ntosa GTPase regulator (mRpgr)
@nl
type
label
Biochemical characterization a ...... ntosa GTPase regulator (mRpgr)
@ast
Biochemical characterization a ...... ntosa GTPase regulator (mRpgr)
@en
Biochemical characterization a ...... ntosa GTPase regulator (mRpgr)
@nl
prefLabel
Biochemical characterization a ...... ntosa GTPase regulator (mRpgr)
@ast
Biochemical characterization a ...... ntosa GTPase regulator (mRpgr)
@en
Biochemical characterization a ...... ntosa GTPase regulator (mRpgr)
@nl
P2093
P2860
P356
P1476
Biochemical characterization a ...... ntosa GTPase regulator (mRpgr)
@en
P2093
A Rehemtulla
R M Tucker
P2860
P304
P356
10.1074/JBC.273.31.19656
P407
P577
1998-07-31T00:00:00Z