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

Abnormal morphology and function in retinal ganglion cells derived from patients-specific iPSCs generated from individuals with Leber's hereditary optic neuropathy.

Human molecular genetics - 6 Jan 2023

Nie Zhipeng, Wang Chenghui, Chen Jiarong, Ji Yanchun, Zhang Hongxing, Zhao Fuxin, Zhou Xiangtian, Guan Min-Xin

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is a maternally inherited eye disease that results from degeneration of retinal ganglion cells (RGC). Mitochondrial ND4 11778G > A mutation, which affects structural components of complex I, is the most prevalent LHON-associated mitochondrial DNA (mtDNA) mutation worldwide. The m.11778G > A mutation is the primary contributor underlying the development of LHON and...

Read the complete abstract on PubMed

Topics

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

Share to DNA, Mitochondrial
Share to Induced Pluripotent Stem Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to NADH Dehydrogenase

Share to Optic Atrophy, Hereditary, Leber

Share to Retinal Ganglion Cells

Source

Open in PubMed Open full text

Identifiers

PMID: 35947995
DOI: 10.1093/hmg/ddac190
PMCID: PMC9840204

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Abnormal morphology and function in retinal ganglion cells derived from patients-specific iPSCs generated from individuals with Leber's hereditary optic neuropathy.PMID 35947995Read ↗

Nuclear modifier YARS2 allele correction restored retinal ganglion cells-specific deficiencies in Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Dysregulation of the circRNA_0087207/miR-548c-3p/PLSR1-TGFB2 axis in Leber hereditary optic neuropathy in vitro.Semantic proximity Read ↗

The pathological mechanisms and novel therapeutics for Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Leber's hereditary optic neuropathy: Update on the novel genes and therapeutic options.Semantic proximity Read ↗

Leber hereditary optic neuropathy-new insights and old challenges.Semantic proximity Read ↗

Leber's hereditary optic neuropathy-associated ND1 3733G>C mutation ameliorates the mitochondrial quality control and cellular homeostasis.Semantic proximity Read ↗

Mitochondrial replacement in an iPSC model of Leber’s hereditary optic neuropathySemantic proximity Read ↗

Creating Cell Model 2.0 Using Patient Samples Carrying a Pathogenic Mitochondrial DNA Mutation: iPSC Approach for LHON.Semantic proximity Read ↗

Emerging model systems and treatment approaches for Leber's hereditary optic neuropathy: Challenges and opportunities.Semantic proximity Read ↗

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Semantic proximity Read ↗

Leber's hereditary optic neuropathy-associated ND6 14484T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy.Semantic proximity Read ↗

Further advances in the diagnosis and treatment of Leber's Hereditary Optic Neuropathy - a review.Semantic proximity Read ↗

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