The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells
about
Biology and therapy of inherited retinal degenerative disease: insights from mouse modelsEarly alteration of retinal neurons in Aipl1-/- animals.Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse modelRAS-converting enzyme 1-mediated endoproteolysis is required for trafficking of rod phosphodiesterase 6 to photoreceptor outer segmentsViral-mediated vision rescue of a novel AIPL1 cone-rod dystrophy model.Rod phosphodiesterase-6 (PDE6) catalytic subunits restore cone function in a mouse model lacking cone PDE6 catalytic subunit.Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1Gene therapy using self-complementary Y733F capsid mutant AAV2/8 restores vision in a model of early onset Leber congenital amaurosisPharmacoethnicity in Paclitaxel-Induced Sensory Peripheral NeuropathyCone phosphodiesterase-6α' restores rod function and confers distinct physiological properties in the rod phosphodiesterase-6β-deficient rd10 mouseAIPL1, A protein linked to blindness, is essential for the stability of enzymes mediating cGMP metabolism in cone photoreceptor cells.Aipl1 is required for cone photoreceptor function and survival through the stability of Pde6c and Gc3 in zebrafish.Gene therapy for retinal diseasePrenylation defects in inherited retinal diseases.Structural studies on AIPL1 and its functional interactions with NUB1 to identify key interacting residues in LCA4.Aryl Hydrocarbon Receptor-interacting Protein-like 1 Is an Obligate Chaperone of Phosphodiesterase 6 and Is Assisted by the γ-Subunit of Its Client.Non-erythropoietic erythropoietin derivatives protect from light-induced and genetic photoreceptor degeneration.Bardet-Biedl Syndrome -8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons.Molecular Anatomy of the Developing Human Retina.The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.AIPL1: A specialized chaperone for the phototransduction effector.Neurotoxicity of cGMP in the vertebrate retina: from the initial research on rd mutant mice to zebrafish genetic approaches.
P2860
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P2860
The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells
description
2009 nî lūn-bûn
@nan
2009 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
The Leber congenital amaurosis ...... ng of cone photoreceptor cells
@ast
The Leber congenital amaurosis ...... ng of cone photoreceptor cells
@en
type
label
The Leber congenital amaurosis ...... ng of cone photoreceptor cells
@ast
The Leber congenital amaurosis ...... ng of cone photoreceptor cells
@en
prefLabel
The Leber congenital amaurosis ...... ng of cone photoreceptor cells
@ast
The Leber congenital amaurosis ...... ng of cone photoreceptor cells
@en
P2093
P2860
P356
P1476
The Leber congenital amaurosis ...... ng of cone photoreceptor cells
@en
P2093
Andrew F X Goldberg
Jeanne M Frederick
Lindsay T Kirschman
Saravanan Kolandaivelu
Wolfgang Baehr
P2860
P304
P356
10.1093/HMG/DDP571
P577
2009-12-30T00:00:00Z