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AIPL1, a Protein Associated with Childhood Blindness, Interacts with α-Subunit of Rod Phosphodiesterase (PDE6) and Is Essential for Its Proper Assembly

17 Sept 2009

Abstract excerpt

Mutations in the gene coding for AIPL1 cause Leber congenital amaurosis (LCA), a severe form of childhood blindness. The severity in disease is reflected in the complete loss of vision and rapid photoreceptor degeneration in the retinas of mice deficient in AIPL1. Our previous observations suggest that rod photoreceptor degeneration in retinas lacking AIPL1 is due to the massive reduction in levels of rod cGMP...

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PMID: 19758987
DOI: 10.1074/jbc.m109.036780

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AIPL1, a Protein Associated with Childhood Blindness, Interacts with α-Subunit of Rod Phosphodiesterase (PDE6) and Is Essential for Its Proper AssemblyPMID 19758987Read ↗

AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase.Semantic proximity Read ↗

Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase.Semantic proximity Read ↗

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Reconstitution of the phosphodiesterase 6 maturation process important for photoreceptor cell function.Semantic proximity Read ↗

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Aipl1 is required for cone photoreceptor function and survival through the stability of Pde6c and Gc3 in zebrafish.Semantic proximity Read ↗

The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retinaSemantic proximity Read ↗

The inherited blindness protein AIPL1 regulates the ubiquitin-like FAT10 pathway.Semantic proximity Read ↗

The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.Semantic proximity Read ↗

Biochemical function of the LCA linked protein, aryl hydrocarbon receptor interacting protein like-1 (AIPL1). Role of AIPL1 in retina.Semantic proximity Read ↗

Interaction of aryl hydrocarbon receptor-interacting protein-like 1 with the farnesyl moiety.Semantic proximity Read ↗

The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex.Semantic proximity Read ↗

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