Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons
about
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaThe role of primary cilia in the development and disease of the retinaCEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathiesThe Role of RPGR and Its Interacting Proteins in CiliopathiesOFD1, as a Ciliary Protein, Exhibits Neuroprotective Function in Photoreceptor Degeneration ModelsThe Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patientsRenal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signalingNPHP4 controls ciliary trafficking of membrane proteins and large soluble proteins at the transition zone.RPGR: Its role in photoreceptor physiology, human disease, and future therapies.Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundanceDiscs of mammalian rod photoreceptors form through the membrane evagination mechanism.Multiple SNP Set Analysis for Genome-Wide Association Studies Through Bayesian Latent Variable Selection.Depletion of BBS Protein LZTFL1 Affects Growth and Causes Retinal Degeneration in Mice.Protein sorting, targeting and trafficking in photoreceptor cellsRPGR, a prenylated retinal ciliopathy protein, is targeted to cilia in a prenylation- and PDE6D-dependent manner.Differential loss of prolyl isomerase or chaperone activity of Ran-binding protein 2 (Ranbp2) unveils distinct physiological roles of its cyclophilin domain in proteostasis.Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl familyAberrant protein trafficking in retinal degenerations: The initial phase of retinal remodeling.Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish.Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration.Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice.The RPGRIP1-related retinal phenotype in children.Cell type-specific regulation of ciliary transition zone assembly in vertebrates.
P2860
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P2860
Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Selective loss of RPGRIP1-depe ...... ation of photoreceptor neurons
@ast
Selective loss of RPGRIP1-depe ...... ation of photoreceptor neurons
@en
type
label
Selective loss of RPGRIP1-depe ...... ation of photoreceptor neurons
@ast
Selective loss of RPGRIP1-depe ...... ation of photoreceptor neurons
@en
prefLabel
Selective loss of RPGRIP1-depe ...... ation of photoreceptor neurons
@ast
Selective loss of RPGRIP1-depe ...... ation of photoreceptor neurons
@en
P2093
P2860
P356
P1476
Selective loss of RPGRIP1-depe ...... ation of photoreceptor neurons
@en
P2093
P2860
P356
10.1038/CDDIS.2012.96
P577
2012-07-19T00:00:00Z