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Article

Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.

Human mutation - 1 Jun 2007

Kanda Atsuhiro, Friedman James S, Nishiguchi Koji M, Swaroop Anand

Abstract excerpt

The transcription factor neural retina leucine zipper (NRL) is required for rod photoreceptor differentiation during mammalian retinal development. NRL interacts with CRX, NR2E3, and other transcription factors and synergistically regulates the activity of photoreceptor-specific genes. Mutations in the human NRL gene are associated with retinal degenerative diseases. Here we report functional analyses of 17 amino...

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Source

Identifiers

PMID: 17335001
DOI: 10.1002/humu.20488

Genes

NRL
CRX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.PMID 17335001Read ↗

Mutations associated with retinopathies alter mitogen-activated protein kinase-induced phosphorylation of neural retina leucine-zipper.Semantic proximity Read ↗

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Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa.Semantic proximity Read ↗

Developmental genome-wide occupancy analysis of bZIP transcription factor NRL uncovers the role of c-Jun in early differentiation of rod photoreceptors in the mammalian retinaSemantic proximity Read ↗

Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.Semantic proximity Read ↗

Heterodimers of photoreceptor-specific nuclear receptor (PNR/NR2E3) and peroxisome proliferator-activated receptor-γ (PPARγ) are disrupted by retinal disease-associated mutations.Semantic proximity Read ↗

NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).Semantic proximity Read ↗

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Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.Semantic proximity Read ↗

Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

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