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

AAV-mediated gene-replacement therapy restores viability of BCD patient iPSC derived RPE cells and vision of Cyp4v3 knockout mice.

Human molecular genetics - 1 Jan 2023

Jia Ruixuan, Meng Xiang, Chen Shaohong, Zhang Fan, Du Juan, Liu Xiaozhen, Yang Liping

Abstract excerpt

Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal degenerative disease characterized by yellow-white crystal deposits in the posterior pole, degeneration of the retinal pigment epithelium (RPE), and sclerosis of the choroid. Mutations in the cytochrome P450 4V2 gene (CYP4V2) cause BCD, which is associated with lipid metabolic disruption. The use of gene-replacement therapy in BCD...

Read the complete abstract on PubMed

Topics

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

Share to Corneal Dystrophies, Hereditary
Share to Cytochrome P-450 Enzyme System

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytochrome P450 Family 4

Share to Dependovirus

Share to Induced Pluripotent Stem Cells

Share to Retinal Degeneration

Share to Retinal Diseases

Source

Identifiers

PMID: 35925866
DOI: 10.1093/hmg/ddac181

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

AAV-mediated gene-replacement therapy restores viability of BCD patient iPSC derived RPE cells and vision of Cyp4v3 knockout mice.PMID 35925866Read ↗

AAV2-mediated gene therapy for Bietti crystalline dystrophy provides functional CYP4V2 in multiple relevant cell models.Semantic proximity Read ↗

Reduction of lipid accumulation rescues Bietti's crystalline dystrophy phenotypes.Semantic proximity Read ↗

Accumulation of Lipid Droplets in a Novel Bietti Crystalline Dystrophy Zebrafish Model With Impaired PPARα Pathway.Semantic proximity Read ↗

A novel and efficient murine model of Bietti crystalline dystrophy.Semantic proximity Read ↗

In vivo genome editing via CRISPR/Cas9-mediated homology-independent targeted integration for Bietti crystalline corneoretinal dystrophy treatment.Semantic proximity Read ↗

Bietti crystalline corneoretinal dystrophy: Advances in understanding and gene therapeutic approaches.Semantic proximity Read ↗

Gene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trialSemantic proximity Read ↗

PSCs Reveal PUFA-Provoked Mitochondrial Stress as a Central Node Potentiating RPE Degeneration in Bietti's Crystalline Dystrophy.Semantic proximity Read ↗

Genetics of Bietti Crystalline Dystrophy.Semantic proximity Read ↗

A Bietti Crystalline Dystrophy Mouse Model Shows Increased Sensitivity to Light-Induced Injury.Semantic proximity Read ↗

Generation of a human induced pluripotent stem cell line from a Bietti crystalline corneoretinal dystrophy patient with CYP4V2 mutations.Semantic proximity Read ↗

Gene replacement therapy restores RCBTB1 expression and cilium length in patient‐derived retinal pigment epitheliumSemantic proximity Read ↗

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