Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases
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Photoreceptor Sensory Cilium: Traversing the Ciliary GateAblation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary compositionAblation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degenerationLoss of Raf-1 kinase inhibitory protein delays early-onset severe retinal ciliopathy in Cep290rd16 mouse.Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina.The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivoCiliary signaling cascades in photoreceptorsHypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.Tackling Primary Cilia Dysfunction in Photoreceptor Degenerative Diseases of the Eye.Structural and molecular bases of rod photoreceptor morphogenesis and disease.Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations.Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis.Stem cells with a view: a look inside a retinal ciliopathyCiliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.ARL2BP, a protein linked to Retinitis Pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure.
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Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 07 May 2012
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
@cs
name
Ciliary transition zone (TZ) p ...... ilia and degenerative diseases
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Ciliary transition zone
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type
label
Ciliary transition zone (TZ) p ...... ilia and degenerative diseases
@en
Ciliary transition zone
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prefLabel
Ciliary transition zone (TZ) p ...... ilia and degenerative diseases
@en
Ciliary transition zone
@nl
P2860
P1476
Ciliary transition zone (TZ) p ...... ilia and degenerative diseases
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P2093
Manisha Anand
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P304
P356
10.1517/14728222.2012.680956
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P577
2012-05-07T00:00:00Z