Property Summary

NCBI Gene PubMed Count 69
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.
20042464 AIPL1 is needed for the proper functioning and survival of cone photoreceptors.
19959640 Variations of macular microstructures were observed among LCA (Leber congenital amaurosis) patients with different genotypes.
19753312 Observational study of gene-disease association. (HuGE Navigator)
18408180 AIPL1 may cooperate with both Hsp70 and Hsp90 within retina-specific chaperone heterocomplex, and specialized role of AIPL1 in photoreceptors may therefore be facilitated by these molecular chaperones.
16272259 AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 mutations may have roles in juvenile retinitis pigmentosa
15469903 aryl hydrocarbon interacting protein-like 1 (AIPL1) mutations may have a role in inherited retinal dystrophies
15347646 Data show that aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) can modulate protein translocation and act in a chaperone-like manner and suggest that AIPL1 is an important modulator of NEDD8 ultimate buster protein 1 (NUB1) cellular function.
15249368 Observational study of gene-disease association. (HuGE Navigator)
15249368 The phenotype of LCA (Leber congenital amaurosis) in patients with AIPL1 mutations is relatively severe, with a maculopathy in most patients and keratoconus and cataract in a large subset.
15180275 Plays role in cytosolic stability and/or nuclear transport of NUB1 during regulation of cell cyle during photoreceptor development.
15081406 interaction between NUB1 and AIPL1 is affected in patients with Leber congenital amaurosis
14555765 Interacts with and aids in processing of farnesylated proteins in the retina.
12374762 The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1 in the retina.
11929855 AIPL1 performs a function essential to the maintenance of rod photoreceptor function
11548141 Phenotype-genotype correlations of AIPL1-associated Leber's congenital amaurosis (LCA)

AA Sequence

MDAALLLNVEGVKKTILHGGTGELPNFITGSRVIFHFRTMKCDEERTVIDDSRQVGQPMHIIIGNMFKLE      1 - 70
VWEILLTSMRVHEVAEFWCDTIHTGVYPILSRSLRQMAQGKDPTEWHVHTCGLANMFAYHTLGYEDLDEL     71 - 140
QKEPQPLVFVIELLQVDAPSDYQRETWNLSNHEKMKAVPVLHGEGNRLFKLGRYEEASSKYQEAIICLRN    141 - 210
LQTKEKPWEVQWLKLEKMINTLILNYCQCLLKKEEYYEVLEHTSDILRHHPGIVKAYYVRARAHAEVWNE    211 - 280
AEAKADLQKVLELEPSMQKAVRRELRLLENRMAEKQEEERLRCRNMLSQGATQPPAEPPTEPPAQSSTEP    281 - 350
PAEPPTAPSAELSAGPPAEPATEPPPSPGHSLQH                                        351 - 384
//

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.
23418749 2013 Unique proline-rich domain regulates the chaperone function of AIPL1.
22412862 2012 Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.
22347407 2012 The inherited blindness protein AIPL1 regulates the ubiquitin-like FAT10 pathway.
21900377 2011 Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1.
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
21602930 2011 Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
21474771 2011 Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy.
21044950 2011 Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20702822 2011 Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
20079931 2010 Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
20065226 2010 Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.
20042464 2010 The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells.
19959640 2010 Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.
19951596 2009 Clinical features and linkage analysis for a Chinese family with autosomal dominant central areolar choroidal dystrophy.
19840725 2009 Which Leber congenital amaurosis patients are eligible for gene therapy trials?
19758987 2009 AIPL1, a protein associated with childhood blindness, interacts with alpha-subunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly.
19753312 2009 Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
18936139 2009 Mutation survey of known LCA genes and loci in the Saudi Arabian population.
18682808 2008 Molecular characterization of Leber congenital amaurosis in Koreans.
18632300 2008 Leber congenital amaurosis: genes, proteins and disease mechanisms.
18408180 2008 The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex.
18055820 2007 An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
18055816 2007 Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
17724218 2007 Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
17326818 2007 Identification of differentially regulated proteins in a patient with Leber's Congenital Amaurosis--a proteomic study.
17286855 2007 Mapping of transcription start sites of human retina expressed genes.
17249611 2006 The chaperone function of the LCA protein AIPL1. AIPL1 chaperone function.
17249560 2006 Biochemical function of the LCA linked protein, aryl hydrocarbon receptor interacting protein like-1 (AIPL1). Role of AIPL1 in retina.
17200655 2006 Novel triple missense mutations of GUCY2D gene in Japanese family with cone-rod dystrophy: possible use of genotyping microarray.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16563381 2006 Focus on molecules: the aryl hydrocarbon receptor interacting protein-like 1 (AIPL1).
16272259 2005 Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
16052170 2005 Predominant rod photoreceptor degeneration in Leber congenital amaurosis.
16020312 2005 Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases.
15691574 2005 Clinical phenotypes in carriers of Leber congenital amaurosis mutations.
15512997 2004 A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15469903 2004 Purification, characterisation and intracellular localisation of aryl hydrocarbon interacting protein-like 1 (AIPL1) and effects of mutations associated with inherited retinal dystrophies.
15365173 2004 AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase.
15347646 2004 The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments.
15270697 2004 Role of AIP and its homologue the blindness-associated protein AIPL1 in regulating client protein nuclear translocation.
15249368 2004 The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
15180275 2003 Functional studies of AIPL1: potential role of AIPL1 in cell cycle exit and/or differentiation of photoreceptors.
15081406 2004 Abolished interaction of NUB1 with mutant AIPL1 involved in Leber congenital amaurosis.
15024725 2004 Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14638743 2003 The expression of the Leber congenital amaurosis protein AIPL1 coincides with rod and cone photoreceptor development.
14611946 2003 Analysis of three genes in Leber congenital amaurosis in Indonesian patients.
14555765 2003 AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins.
12881340 2003 An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12374762 2002 The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.
12015276 2002 Molecular genetics of Leber congenital amaurosis.
11929855 2002 The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina.
10873396 2000 Prevalence of AIPL1 mutations in inherited retinal degenerative disease.
10615133 2000 Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.
10331942 1999 Localization of retina/pineal-expressed sequences: identification of novel candidate genes for inherited retinal disorders.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.