The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.

doi:10.1093/brain/aww222

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

Community

Back to search

Article

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.

Brain : a journal of neurology - 1 Nov 2016

Chao de la Barca Juan Manuel, Simard Gilles, Amati-Bonneau Patrizia, Safiedeen Zainab, Prunier-Mirebeau Delphine, Chupin Stéphanie, Gadras Cédric, Tessier Lydie, Gueguen Naïg, Chevrollier Arnaud, Desquiret-Dumas Valérie, Ferré Marc, Bris Céline, Kouassi Nzoughet Judith, Bocca Cinzia, Leruez Stéphanie, Verny Christophe, Miléa Dan, Bonneau Dominique, Lenaers Guy, Martinez M Carmen, Procaccio Vincent, Reynier Pascal

Abstract excerpt

Leber's hereditary optic neuropathy (MIM#535000), the commonest mitochondrial DNA-related disease, is caused by mutations affecting mitochondrial complex I. The clinical expression of the disorder, usually occurring in young adults, is typically characterized by subacute, usually sequential, bilateral visual loss, resulting from the degeneration of retinal ganglion cells. As the precise action of mitochondrial...

Read the complete abstract on PubMed

Topics

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

Share to Electron Transport Complex I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endoplasmic Reticulum Stress

Share to Fibroblasts

Share to Insecticides

Share to Metabolomics

Share to Optic Atrophy, Hereditary, Leber

Share to Pyridines

Share to Rotenone

Source

Open in PubMed

Identifiers

PMID: 27633772
DOI: 10.1093/brain/aww222

Genes

EBP
XBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.PMID 27633772Read ↗

A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies.Semantic proximity Read ↗

Profiling the mitochondrial proteome of Leber's Hereditary Optic Neuropathy (LHON) in Thailand: down-regulation of bioenergetics and mitochondrial protein quality control pathways in fibroblasts with the 11778G>A mutation.Semantic proximity Read ↗

Oxidative Stress Profile in Genetically Confirmed Cases of Leber's Hereditary Optic Neuropathy.Semantic proximity Read ↗

Metabolomics in Retinal Diseases: An UpdateSemantic proximity Read ↗

Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Metabolomics of ocular immune diseasesSemantic proximity Read ↗

From Transcriptomics to Treatment in Inherited Optic Neuropathies.Semantic proximity Read ↗

Oestrogens ameliorate mitochondrial dysfunction in Leber’s hereditary optic neuropathySemantic proximity Read ↗

Involvement of endoplasmic reticulum stress in rotenone-induced leber hereditary optic neuropathy model and the discovery of new therapeutic agents.Semantic proximity Read ↗

Proteomic Profiling Reveals Increased Glycolysis, Decreased Oxidoreductase Activity and Fatty Acid Degradation in Skin Derived Fibroblasts from LHON Patients Bearing m.G11778A.Semantic proximity Read ↗

A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders.Semantic proximity Read ↗

Mitochondrial disorders and the eye.Semantic proximity Read ↗

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