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Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset.
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This review summarizes important recent advances in understanding the mechanisms underlying normal function of AIPL1 and the protein perturbations caused by pathogenic mutations
findings offer critical insights into the mechanisms that underlie AIPL1 function in health and disease, and highlight the structural and functional diversity of the FKBPs
Authors characterized the functional deficits of AIPL1 variations, some of which induce aberrant pre-mRNA AIPL1 splicing leading to the production of alternative AIPL1 isoforms and investigated the ability of the AIPL1 variants to mediate an interaction with HSP90 (zeige HSP90 Antikörper) and modulate the rod cGMP PDE6 stability and activity.
Findings suggest that AIPL1 function in retinal photoreceptor cells is not related to the role of EB proteins in microtubule dynamics or primary ciliogenesis, but their association may be related to a specific role in the retinal photoreceptors.
The authors established a transgenic mouse model for cone-rod dystrophy carrying human AIPL1 gene with deletion in the C-terminal proline-rich region.
Gene therapy based approach may be worthy of consideration in a small group of selected patients with preserved outer retinal structure in AIPL1 Leber's congenital amaurosis.
Mutations in the AIPL1 and RDH12 (zeige RDH12 Antikörper) genes associated with leber congenital amaurosis in two Turkish families.
In this chapter, using results obtained from multiple lines of animal models, we discuss the role for AIPL1 in photoreceptors.
The unique proline-rich domain of AIPL1 is important for its chaperone function as its truncation severely affects the ability of AIPL1 to bind non-native proteins.
implicate FAT10 (zeige UBD Antikörper) in retinal cell biology and Leber congenital amaurosis pathogenesis, and reveal a new role of AIPL1 in regulating the FAT10 (zeige UBD Antikörper) pathway.
AIPL1-mediated production of folded PDE6C (zeige PDE6C Antikörper) is markedly elevated in the presence of the inhibitory Pgamma-subunit of PDE6.
mechanistic differences behind the death of rods and cones in retinal degenerative disease caused by deficiencies in AIPL1.
The binding of PDE6A (zeige PDE6A Antikörper) farnesyl is essential to normal function of AIPL1 and its disruption is one of the mechanisms underlying Leber congenital amaurosis.
Loss of AIPL1 would result in a condition that phenocopies retinal degenerations in the rd mouse and in a subgroup of human
AIPL1 enhances the stability of phosphodiesterase and is essential for photoreceptor viability.
AIPL1 has a role in the retina and in mouse models of Leber congenital amaurosis [review]
AIPL1 interacts with the catalytic subunit (alpha) of PDE6 and is needed for the assembly of functional rod PDE6 subunits.
Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA.
aryl hydrocarbon receptor interacting protein-like 1
, aryl-hydrocarbon-interacting protein-like 1
, aryl-hydrocarbon interacting protein-like 1