Property Summary

NCBI Gene PubMed Count 69
Grant Count 11
R01 Count 9
Funding $2,073,203.19
PubMed Score 55.68
PubTator Score 79.58

Knowledge Summary

Patent

No data available

Gene RIF (25)

PMID Text
25799540 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.
25596619 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.
25274777 The authors established a transgenic mouse model for cone-rod dystrophy carrying human AIPL1 gene with deletion in the C-terminal proline-rich region.
25148430 Mutations in the AIPL1 and RDH12 genes associated with leber congenital amaurosis in two Turkish families.
24664679 In this chapter, using results obtained from multiple lines of animal models, we discuss the role for AIPL1 in photoreceptors.
23418749 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.
22347407 implicate FAT10 in retinal cell biology and Leber congenital amaurosis pathogenesis, and reveal a new role of AIPL1 in regulating the FAT10 pathway.
21900377 Patients with mutations in AIPL1 may present with Leber congenital amaurosis and residual ERGs (electroretinography) characterized by slow insensitive scotopic responses.
20801516 Observational study of genetic testing. (HuGE Navigator)
20702822 AIPL1-Leber congenital amaurosis (LCA), unlike some other forms of LCA with equally severe visual disturbance, shows profound loss of foveal as well as extrafoveal photoreceptors.
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AA Sequence

MDAALLLNVEGVKKTILHGGTGELPNFITGSRVIFHFRTMKCDEERTVIDDSRQVGQPMHIIIGNMFKLE      1 - 70
VWEILLTSMRVHEVAEFWCDTIHTGVYPILSRSLRQMAQGKDPTEWHVHTCGLANMFAYHTLGYEDLDEL     71 - 140
QKEPQPLVFVIELLQVDAPSDYQRETWNLSNHEKMKAVPVLHGEGNRLFKLGRYEEASSKYQEAIICLRN    141 - 210
LQTKEKPWEVQWLKLEKMINTLILNYCQCLLKKEEYYEVLEHTSDILRHHPGIVKAYYVRARAHAEVWNE    211 - 280
AEAKADLQKVLELEPSMQKAVRRELRLLENRMAEKQEEERLRCRNMLSQGATQPPAEPPTEPPAQSSTEP    281 - 350
PAEPPTAPSAELSAGPPAEPATEPPPSPGHSLQH                                        351 - 384
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Text Mined References (69)

PMID Year Title
25799540 2015 The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium.
25596619 2015 Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy.
25274777 2015 Viral-mediated vision rescue of a novel AIPL1 cone-rod dystrophy model.
25148430 2014 Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
24664679 2014 AIPL1 protein and its indispensable role in cone photoreceptor function and survival.
24108108 2014 AIPL1, A protein linked to blindness, is essential for the stability of enzymes mediating cGMP metabolism in cone photoreceptor cells.
24093488 2015 Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son.
24066033 2013 Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.
23737531 2013 Interaction of aryl hydrocarbon receptor-interacting protein-like 1 with the farnesyl moiety.
23734073 2013 A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy.
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