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Article

Deciphering a crucial dimeric interface governing Norrin dimerization and the pathogenesis of familial exudative vitreoretinopathy.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 29 Feb 2024

Zhao Rulian, Liu Min, Dai Erkuan, Chen Chen, Lv Liting, Peng Li, He Yunqi, Li Shujin, Yang Mu

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disease that could cause blindness. It has been established that Norrin forms dimers to activate β-catenin signaling, yet the core interface for Norrin dimerization and the precise mechanism by which Norrin dimerization contributes to the pathogenesis of FEVR remain elusive. Here, we report an NDP variant, c.265T>C (p.Phe89Leu), that interrupted...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38363575
DOI: 10.1096/fj.202302387R

Genes

LRP5
NDP
TSPAN12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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Deciphering a crucial dimeric interface governing Norrin dimerization and the pathogenesis of familial exudative vitreoretinopathy.PMID 38363575Read ↗

A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.Semantic proximity Read ↗

Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation.Semantic proximity Read ↗

Genetic detection of two novel LRP5 mutations in patients with familial exudative vitreoretinopathySemantic proximity Read ↗

Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations.Semantic proximity Read ↗

Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/β-Catenin Signaling Pathway.Semantic proximity Read ↗

Identification of LRP5 mutations in families with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Characterization of a novel heterozygous frameshift variant in NDP gene that causes familial exudative vitreoretinopathy in female patients.Semantic proximity Read ↗

Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling.Semantic proximity Read ↗

Genetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy.Semantic proximity Read ↗

A novel variant p.Y250C of FZD4 influences Norrine/β-catenin signaling pathway that associates with familial exudative vitreoretinopathy (FEVR).Semantic proximity Read ↗

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