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Article

The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.

Human molecular genetics - 15 Nov 2017

Sacristan-Reviriego Almudena, Bellingham James, Prodromou Chrisostomos, Boehm Annika N, Aichem Annette, Kumaran Neruban, Bainbridge James, Michaelides Michel, van der Spuy Jacqueline

Abstract excerpt

Biallelic mutations in the photoreceptor-expressed aryl hydrocarbon receptor interacting protein-like 1 (AIPL1) are associated with autosomal recessive Leber congenital amaurosis (LCA), the most severe form of inherited retinopathy in early childhood. AIPL1 functions as a photoreceptor-specific c...

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Source

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Identifiers

PMID: 28973376
DOI: 10.1093/hmg/ddx334
PMCID: PMC5886190

Genes

AIPL1
TPR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-28973376-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

Related research

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The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.PMID 28973376Read ↗

Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration.Semantic proximity Read ↗

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

AIPL1: A specialized chaperone for the phototransduction effector.Semantic proximity Read ↗

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

Extended conformation of the proline-rich domain of human aryl hydrocarbon receptor-interacting protein-like 1: implications for retina disease.Semantic proximity Read ↗

Investigation of Aberrant Splicing Induced byAIPL1Variations as a Cause of Leber Congenital AmaurosisSemantic proximity Read ↗

Retinal Organoids from an AIPL1 CRISPR/Cas9 Knockout Cell Line Successfully Recapitulate the Molecular Features of LCA4 DiseaseSemantic proximity Read ↗

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

Comparative analysis of aryl-hydrocarbon receptor interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans.Semantic proximity Read ↗

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

Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1.Semantic proximity Read ↗

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

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