The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
about
AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesteraseExtended conformation of the proline-rich domain of human aryl hydrocarbon receptor-interacting protein-like 1: implications for retina disease.Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutationsEarly alteration of retinal neurons in Aipl1-/- animals.The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cellsDifferential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.Review and update on the molecular basis of Leber congenital amaurosisViral-mediated vision rescue of a novel AIPL1 cone-rod dystrophy model.Leber congenital amaurosis caused by mutations in RPGRIP1.Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian FamiliesInteraction of aryl hydrocarbon receptor-interacting protein-like 1 with the farnesyl moietyGene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectorsAIPL1, a protein associated with childhood blindness, interacts with alpha-subunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly.A novel VSX1 mutation identified in an individual with keratoconus in IndiaAIPL1, A protein linked to blindness, is essential for the stability of enzymes mediating cGMP metabolism in cone photoreceptor cells.Gene supplementation therapy for recessive forms of inherited retinal dystrophies.Gene therapy for Leber congenital amaurosis: advances and future directions.The Genetics of Keratoconus: A Review.Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.Available Evidence on Leber Congenital Amaurosis and Gene Therapy.Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.Aryl Hydrocarbon Receptor-interacting Protein-like 1 Is an Obligate Chaperone of Phosphodiesterase 6 and Is Assisted by the γ-Subunit of Its Client.Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypesOcular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation.Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan.Juvenile Macular Degenerations.A mutation in IFT43 causes non-syndromic recessive retinal degeneration.Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.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.Unique structural features of the AIPL1-FKBP domain that support prenyl lipid binding and underlie protein malfunction in blindness.NMR resonance assignments of the FKBP domain of human aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) in complex with a farnesyl ligand.
P2860
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P2860
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
description
2004 nî lūn-bûn
@nan
2004 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
@ast
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
@en
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
@nl
type
label
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
@ast
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
@en
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
@nl
prefLabel
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
@ast
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
@en
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
@nl
P2093
P50
P1433
P1476
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
@en
P2093
Alan C Bird
Annette M Payne
Bart P Leroy
Elaine De Pool
Graham E Holder
Irene H Maumenee
Khalid Anwar
Melanie M Sohocki
Mohammad Ismail
Natalio Izquierdo
P304
P356
10.1001/ARCHOPHT.122.7.1029
P407
P577
2004-07-01T00:00:00Z