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Article

Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells.

Human molecular genetics - 15 Feb 2002

Wong Alice, Cavelier Lucia, Collins-Schramm Heather E, Seldin Michael F, McGrogan Michael, Savontaus Marja-Liisa, Cortopassi Gino A

Abstract excerpt

Inheritance of one of three primary mutations at positions 11778, 3460 or 14484 of the mitochondrial genome in subunits of Complex I causes Leber's Hereditary Optic Neuropathy (LHON), a specific degeneration of the optic nerve, resulting in bilateral blindness. It has been unclear why inheritance of a systemic mitochondrial mutation would result in a specific neurodegeneration. To address the neuron-specific...

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Identifiers

PMID: 11854175
DOI: 10.1093/hmg/11.4.431

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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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Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells.PMID 11854175Read ↗

Optimized allotopic expression of mitochondrial ND6 transgene restored complex I and apoptosis deficiencies caused by LHON-linked ND6 14484T > C mutation.Semantic proximity Read ↗

Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.Semantic proximity Read ↗

Development of Two In Vitro ND1-LHON Models for Evaluating Gene Therapy Efficacy.Semantic proximity Read ↗

Assocation Between Leber's Hereditary Optic Neuropathy and MT-ND1 3460G>A Mutation-Induced Alterations in Mitochondrial Function, Apoptosis, and Mitophagy.Semantic proximity Read ↗

Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids.Semantic proximity Read ↗

Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations.Semantic proximity Read ↗

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

The G11778A LHON mutation does not enhance ethambutol cytotoxicity in a cybrid model.Semantic proximity Read ↗

Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction.Semantic proximity Read ↗

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

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

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