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

Overexpression of Type 3 Iodothyronine Deiodinase Reduces Cone Death in the Leber Congenital Amaurosis Model Mice.

Advances in experimental medicine and biology - 1 Jan 2018

Yang Fan, Ma Hongwei, Boye Sanford L, Hauswirth William W, Ding Xi-Qin

Abstract excerpt

Leber congenital amaurosis (LCA) is a devastating pediatric retinal degenerative disease, accounting for 20% of blindness in children attending schools for the blind. Mutations in the RPE65 gene, which encodes the retinal pigment epithelium-specific isomerohydrolase RPE65, account for 16% of all LCA cases. Recent findings have linked cone photoreceptor viability to thyroid hormone (TH) signaling. TH signaling...

Read the complete abstract on PubMed

Topics

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

Share to cis-trans-Isomerases
Share to Genes, Synthetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterotrimeric GTP-Binding Proteins

Share to Iodide Peroxidase

Share to Leber Congenital Amaurosis

Share to Retinal Cone Photoreceptor Cells

Share to Retinol-Binding Proteins

Share to Thyroid Hormones

Source

Identifiers

PMID: 29721936
DOI: 10.1007/978-3-319-75402-4_16

Genes

DIO3
DIO2
RPE65
GNAT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Overexpression of Type 3 Iodothyronine Deiodinase Reduces Cone Death in the Leber Congenital Amaurosis Model Mice.PMID 29721936Read ↗

DIO3 coordinates photoreceptor development timing and fate stability in human retinal organoidsSemantic proximity Read ↗

Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosisSemantic proximity Read ↗

Autophagy disruption and mitochondrial stress precede photoreceptor necroptosis in multiple mouse models of inherited retinal disordersSemantic proximity Read ↗

Autophagy disruption and mitochondrial stress precede photoreceptor necroptosis in multiple mouse models of inherited retinal disordersSemantic proximity Read ↗

RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12Semantic proximity Read ↗

Excessive Thyroid Hormone Signaling Induces Photoreceptor Degeneration in MiceSemantic proximity Read ↗

Deficiency of thyroid hormone receptor protects retinal pigment epithelium and photoreceptors from cell death in a mouse model of age-related macular degenerationSemantic proximity Read ↗

CRISPR-Cas9-mediated therapeutic editing of Rpe65 ameliorates the disease phenotypes in a mouse model of Leber congenital amaurosis.Semantic proximity Read ↗

Human cone photoreceptor dependence on RPE65 isomeraseSemantic proximity Read ↗

Allele-specific gene editing to rescue dominant CRX-associated LCA7 phenotypes in a retinal organoid model.Semantic proximity Read ↗

Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease.Semantic proximity Read ↗

Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations.Semantic proximity Read ↗

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