The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex.
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Hsp90 as a Potential Therapeutic Target in Retinal DiseaseComprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in DenmarkExtended conformation of the proline-rich domain of human aryl hydrocarbon receptor-interacting protein-like 1: implications for retina disease.Hsp90 and co-chaperones twist the functions of diverse client proteins.The inherited blindness protein AIPL1 regulates the ubiquitin-like FAT10 pathwayLeber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.Differential proteomics and functional research following gene therapy in a mouse model of Leber congenital amaurosisThe Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor ciliumCharacterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families.Synphilin-1-binding protein NUB1 is colocalized with nonfibrillar, proteinase K-resistant α-synuclein in presynapses in Lewy body diseaseResidual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation.Molecular chaperones and photoreceptor function.Interaction of aryl hydrocarbon receptor-interacting protein-like 1 with the farnesyl moietyNEDD8 ultimate buster-1 long (NUB1L) protein promotes transfer of NEDD8 to proteasome for degradation through the P97UFD1/NPL4 complex.AIPL1, a protein associated with childhood blindness, interacts with alpha-subunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly.Hsp90 inhibition protects against inherited retinal degeneration.Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.Mouse models of human ocular disease for translational research.Aryl Hydrocarbon Receptor-interacting Protein-like 1 Is an Obligate Chaperone of Phosphodiesterase 6 and Is Assisted by the γ-Subunit of Its Client.Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90).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.
P2860
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P2860
The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
The Leber congenital amaurosis ...... of a chaperone heterocomplex.
@en
The Leber congenital amaurosis ...... of a chaperone heterocomplex.
@nl
type
label
The Leber congenital amaurosis ...... of a chaperone heterocomplex.
@en
The Leber congenital amaurosis ...... of a chaperone heterocomplex.
@nl
prefLabel
The Leber congenital amaurosis ...... of a chaperone heterocomplex.
@en
The Leber congenital amaurosis ...... of a chaperone heterocomplex.
@nl
P2093
P2860
P356
P1476
The Leber congenital amaurosis ...... of a chaperone heterocomplex.
@en
P2093
Jacqueline van der Spuy
Juan Hidalgo-de-Quintana
Michael E Cheetham
R Jane Evans
P2860
P304
P356
10.1167/IOVS.07-1576
P407
P577
2008-04-11T00:00:00Z