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

The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.

Annals of neurology - 1 Nov 2004

Valentino Maria Lucia, Barboni Piero, Ghelli Anna, Bucchi Laura, Rengo Chiara, Achilli Alessandro, Torroni Antonio, Lugaresi Alessandra, Lodi Raffaele, Barbiroli Bruno, Dotti Mariateresa, Federico Antonio, Baruzzi Agostino, Carelli Valerio

Abstract excerpt

A novel mitochondrial DNA (mtDNA) transition (3733G-->A) inducing the E143 K amino acid change at a very conserved site of the NADH dehydrogenase subunit 1 (ND1) was identified in a family with six maternally related individuals with Leber's hereditary optic neuropathy (LHON) and in an unrelated sporadic case, all negative for known mutations and presenting with the canonical phenotype. The transition was not...

Read the complete abstract on PubMed

Topics

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

Share to Mitochondria, Muscle
Share to NAD

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Occipital Lobe

Share to Optic Atrophy, Hereditary, Leber

Share to Radionuclide Imaging

Share to Rotenone

Share to Succinate Dehydrogenase

Share to Visual Fields

Source

Identifiers

PMID: 15505787
DOI: 10.1002/ana.20236

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.PMID 15505787Read ↗

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.Semantic proximity Read ↗

m.3635G>A mutation as a cause of Leber hereditary optic neuropathy.Semantic proximity Read ↗

Previously Unclassified Mutation of mtDNA m.3472T>C: Evidence of Pathogenicity in Leber's Hereditary Optic Neuropathy.Semantic proximity Read ↗

Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's Hereditary Optic Neuropathy.Semantic proximity Read ↗

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathySemantic proximity Read ↗

Fifteen novel mutations in the mitochondrial NADH dehydrogenase subunit 1, 2, 3, 4, 4L, 5 and 6 genes from Iranian patients with Leber's hereditary optic neuropathy (LHON).Semantic proximity Read ↗

Dysregulation of mitochondria, apoptosis and mitophagy in Leber's hereditary optic neuropathy with MT-ND1 3635G>A mutation.Semantic proximity Read ↗

Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.Semantic proximity Read ↗

Identification of novel mitochondrial mutations in Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.Semantic proximity Read ↗

New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy.Semantic proximity Read ↗

Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON).Semantic proximity Read ↗

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