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Search results 1 to 97 out of 97 for Aipl1

0.031s
Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: chicken
Gene
Type: gene
Organism: zebrafish
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: frog, western clawed
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: rat
Gene
Type: gene
Organism: dog, domestic
Gene
Type: gene
Organism: chimpanzee
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Domain
Type: Family
Description: Aryl-hydrocarbon-interacting protein-like 1 (AIPL1) appears to function as a photoreceptor-specific molecular chaperone. Mutations in the AIPL1 gene cause Leber's congenital amaurosis (LCA), which is characterised by profound visual impairment or loss at birth [].
Publication
First Author: Ku CA
Year: 2015
Journal: Hum Mol Genet
Title: Viral-mediated vision rescue of a novel AIPL1 cone-rod dystrophy model.
Volume: 24
Issue: 3
Pages: 670-84
Publication
First Author: Hidalgo-de-Quintana J
Year: 2015
Journal: PLoS One
Title: The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium.
Volume: 10
Issue: 3
Pages: e0121440
Publication
First Author: Makino CL
Year: 2006
Journal: Invest Ophthalmol Vis Sci
Title: Effects of low AIPL1 expression on phototransduction in rods.
Volume: 47
Issue: 5
Pages: 2185-94
Publication
First Author: Akey DT
Year: 2002
Journal: Hum Mol Genet
Title: The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.
Volume: 11
Issue: 22
Pages: 2723-33
Publication
First Author: Sun X
Year: 2010
Journal: Gene Ther
Title: Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations.
Volume: 17
Issue: 1
Pages: 117-31
Publication
First Author: Tan MH
Year: 2009
Journal: Hum Mol Genet
Title: Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors.
Volume: 18
Issue: 12
Pages: 2099-114
Protein
Organism: Mus musculus/domesticus
Length: 179  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 61  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 204  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 328  
Fragment?: false
Publication
First Author: Sohocki MM
Year: 2001
Journal: Mamm Genome
Title: Comparative analysis of aryl-hydrocarbon receptor interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans.
Volume: 12
Issue: 7
Pages: 566-8
Publication
First Author: Ramamurthy V
Year: 2004
Journal: Proc Natl Acad Sci U S A
Title: Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase.
Volume: 101
Issue: 38
Pages: 13897-902
Publication
First Author: Liu X
Year: 2004
Journal: Proc Natl Acad Sci U S A
Title: AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase.
Volume: 101
Issue: 38
Pages: 13903-8
Publication
First Author: Ramamurthy V
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins.
Volume: 100
Issue: 22
Pages: 12630-5
Publication
First Author: Dyer MA
Year: 2004
Journal: Brain Res Mol Brain Res
Title: Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis.
Volume: 132
Issue: 2
Pages: 208-20
Publication
First Author: Gopalakrishna KN
Year: 2016
Journal: J Biol Chem
Title: Aryl Hydrocarbon Receptor-interacting Protein-like 1 Is an Obligate Chaperone of Phosphodiesterase 6 and Is Assisted by the γ-Subunit of Its Client.
Volume: 291
Issue: 31
Pages: 16282-91
Publication
First Author: Kolandaivelu S
Year: 2014
Journal: Hum Mol Genet
Title: AIPL1, A protein linked to blindness, is essential for the stability of enzymes mediating cGMP metabolism in cone photoreceptor cells.
Volume: 23
Issue: 4
Pages: 1002-12
Publication
First Author: Kirschman LT
Year: 2010
Journal: Hum Mol Genet
Title: The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells.
Volume: 19
Issue: 6
Pages: 1076-87
Publication
First Author: Yadav RP
Year: 2022
Journal: J Biol Chem
Title: Molecular insights into the maturation of phosphodiesterase 6 by the specialized chaperone complex of HSP90 with AIPL1.
Volume: 298
Issue: 3
Pages: 101620
Publication
First Author: Yadav RP
Year: 2019
Journal: J Biol Chem
Title: Interaction of the tetratricopeptide repeat domain of aryl hydrocarbon receptor-interacting protein-like 1 with the regulatory Pγ subunit of phosphodiesterase 6.
Volume: 294
Issue: 43
Pages: 15795-15807
Publication
First Author: Kolandaivelu S
Year: 2009
Journal: J Biol Chem
Title: AIPL1, a protein associated with childhood blindness, interacts with alpha-subunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly.
Volume: 284
Issue: 45
Pages: 30853-61
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
Publication
First Author: Singh RK
Year: 2014
Journal: Invest Ophthalmol Vis Sci
Title: Early alteration of retinal neurons in Aipl1-/- animals.
Volume: 55
Issue: 5
Pages: 3081-92
Publication
First Author: Murphy D
Year: 2016
Journal: PLoS Genet
Title: The Musashi 1 Controls the Splicing of Photoreceptor-Specific Exons in the Vertebrate Retina.
Volume: 12
Issue: 8
Pages: e1006256
Publication
First Author: Bisbach CM
Year: 2020
Journal: Cell Rep
Title: Succinate Can Shuttle Reducing Power from the Hypoxic Retina to the O2-Rich Pigment Epithelium.
Volume: 31
Issue: 5
Pages: 107606
Publication
First Author: Colella P
Year: 2011
Journal: Hum Mol Genet
Title: Non-erythropoietic erythropoietin derivatives protect from light-induced and genetic photoreceptor degeneration.
Volume: 20
Issue: 11
Pages: 2251-62
Publication
First Author: Christiansen JR
Year: 2011
Journal: Proc Natl Acad Sci U S A
Title: RAS-converting enzyme 1-mediated endoproteolysis is required for trafficking of rod phosphodiesterase 6 to photoreceptor outer segments.
Volume: 108
Issue: 21
Pages: 8862-6
Publication
First Author: Krebs MP
Year: 2017
Journal: PLoS One
Title: Mouse models of human ocular disease for translational research.
Volume: 12
Issue: 8
Pages: e0183837
Publication
First Author: Murphy D
Year: 2015
Journal: Mol Cell Biol
Title: Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa.
Volume: 35
Issue: 10
Pages: 1860-70
Publication
First Author: Maddala R
Year: 2021
Journal: Sci Rep
Title: Absence of S100A4 in the mouse lens induces an aberrant retina-specific differentiation program and cataract.
Volume: 11
Issue: 1
Pages: 2203
Publication      
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
Publication  
First Author: Collin GB
Year: 2020
Journal: Cells
Title: Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Volume: 9
Issue: 4
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
Publication      
First Author: Helmholtz Zentrum Muenchen GmbH
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu)
Publication        
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
Publication        
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database
Publication
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
Publication
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
Allele
Name: aryl hydrocarbon receptor-interacting protein-like 1; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
Allele
Name: aryl hydrocarbon receptor-interacting protein-like 1; targeted mutation 1, Visvanathan Ramamurthy
Allele Type: Targeted
Attribute String: Null/knockout
Allele
Name: aryl hydrocarbon receptor-interacting protein-like 1; translational vision research model 127
Allele Type: Chemically induced (ENU)
Attribute String: Not Specified
Allele
Name: aryl hydrocarbon receptor-interacting protein-like 1; targeted mutation 1, Tiansen Li
Allele Type: Targeted
Attribute String: Hypomorph
Allele
Name: aryl hydrocarbon receptor-interacting protein-like 1; translational vision research model 119
Allele Type: Chemically induced (ENU)
Attribute String: Not Specified
Allele
Name: aryl hydrocarbon receptor-interacting protein-like 1; targeted mutation 1, Michael A Dyer
Allele Type: Targeted
Attribute String: Null/knockout
Allele
Name: transgene insertion, Visvanathan Ramamurthy
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
Genotype
Symbol: Aipl1/Aipl1
Background: involves: 129S4/SvJae * C57BL/6
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Aipl1/Aipl1
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Aipl1/Aipl1
Background: involves: 129S7/SvEvBrd
Zygosity: hm
Has Mutant Allele: true
DO Term
Genotype
Symbol: Aipl1/Aipl1
Background: C57BL/6J-Aipl1/Pjn
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Aipl1/Aipl1
Background: C57BL/6J-Aipl1/Pjn
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Aipl1/Aipl1 Tg(Crx-AIPL1*P351)#Visu/?
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N
Zygosity: cx
Has Mutant Allele: true
Publication
First Author: Ochocinska MJ
Year: 2012
Journal: J Neurochem
Title: NeuroD1 is required for survival of photoreceptors but not pinealocytes: results from targeted gene deletion studies.
Volume: 123
Issue: 1
Pages: 44-59