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Article

The inherited blindness protein AIPL1 regulates the ubiquitin-like FAT10 pathway.

PloS one - 1 Jan 2012

Bett John S, Kanuga Naheed, Richet Emma, Schmidtke Gunter, Groettrup Marcus, Cheetham Michael E, van der Spuy Jacqueline

Abstract excerpt

Mutations in AIPL1 cause the inherited blindness Leber congenital amaurosis (LCA). AIPL1 has previously been shown to interact with NUB1, which facilitates the proteasomal degradation of proteins modified with the ubiquitin-like protein FAT10. Here we report that AIPL1 binds non-covalently to fre...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 22347407
DOI: 10.1371/journal.pone.0030866
PMCID: PMC3274541

Genes

AIPL1
NUB1
DHFR
UBA6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22347407-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The inherited blindness protein AIPL1 regulates the ubiquitin-like FAT10 pathway.PMID 22347407Read ↗

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

The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.Semantic proximity Read ↗

The Expression of the Leber Congenital Amaurosis Protein AIPL1 Coincides with Rod and Cone Photoreceptor DevelopmentSemantic proximity Read ↗

The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments.Semantic proximity Read ↗

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

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

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.Semantic proximity Read ↗

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

The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retinaSemantic proximity Read ↗

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

Biochemical function of the LCA linked protein, aryl hydrocarbon receptor interacting protein like-1 (AIPL1). Role of AIPL1 in retina.Semantic proximity Read ↗

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