RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy.
about
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathiesPrimary cilia and coordination of receptor tyrosine kinase (RTK) signalling.Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degenerationRPGR-associated retinal degeneration in human X-linked RP and a murine model.Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.Priorities and trends in the study of proteins in eye research, 1924-2014Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene.Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation.Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy.Aberrant protein trafficking in retinal degenerations: The initial phase of retinal remodeling.Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa.
P2860
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P2860
RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy.
description
article científic
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article scientifique
@fr
articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 21 December 2010
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy.
@en
RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy.
@nl
type
label
RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy.
@en
RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy.
@nl
prefLabel
RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy.
@en
RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy.
@nl
P2093
P2860
P1433
P1476
RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy.
@en
P2093
Birgit Lorenz
Jutta Hosch
Knut Stieger
P2860
P356
10.3109/13816810.2010.535889
P577
2010-12-21T00:00:00Z