Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.

Human molecular genetics - 15 Oct 2002

Akey Dayna T, Zhu Xuemei, Dyer Michael, Li Aimin, Sorensen Adam, Blackshaw Seth, Fukuda-Kamitani Taeko, Daiger Stephen P, Craft Cheryl M, Kamitani Tetsu, Sohocki Melanie M

Abstract excerpt

Mutations in the aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) gene have been found in patients with Leber congenital amaurosis (LCA), a severe, early-onset form of retinal degeneration. To determine the normal function of AIPL1 and to better understand how mutations in this gene c...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adaptor Proteins, Signal Transducing
Share to COS Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Gene Expression Regulation, Developmental

Share to In Vitro Techniques

Share to Optic Atrophy, Hereditary, Leber

Share to Retina

Share to Two-Hybrid System Techniques

Source

Open in PubMed Open full text

Identifiers

PMID: 12374762
DOI: 10.1093/hmg/11.22.2723
PMCID: PMC2585502

Genes

AIPL1
NUB1
NEDD8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12374762-2026-09-04.2. 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 associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.PMID 12374762Read ↗

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

Predominant rod photoreceptor degeneration in Leber congenital amaurosis.Semantic proximity Read ↗

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

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

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.Semantic proximity Read ↗

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.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 ↗

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

Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.