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

New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy.

Clinical & experimental ophthalmology - 1 Dec 2014

Martínez-Romero Íñigo, Herrero-Martín M Dolores, Llobet Laura, Emperador Sonia, Martín-Navarro Antonio, Narberhaus Bernat, Ascaso Francisco J, López-Gallardo Ester, Montoya Julio, Ruiz-Pesini Eduardo

Abstract excerpt

BACKGROUND: Mutations causing Leber hereditary optic neuropathy are usually homoplasmic, show incomplete penetrance, and many of the affected positions are not well conserved through evolution. A large percentage of patients harbouring these mutations have no family history of disease. Moreover, the transfer of the mutation in the cybrid model is frequently not accompanied by the transfer of the cellular,...

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 Mitochondria

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

Share to NADH Dehydrogenase

Share to Optic Atrophy, Hereditary, Leber

Share to Polymorphism, Restriction Fragment Length

Share to Protein Structure, Secondary

Share to Visual Field Tests

Share to Visual Fields

Source

Identifiers

PMID: 24800637
DOI: 10.1111/ceo.12355

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

New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy.PMID 24800637Read ↗

Rare primary mitochondrial DNA mutations and probable synergistic variants in 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 ↗

Novel Mutations of mtDNA m.14568G>A/m.14568C>T in MT-ND6 and m.7299A>G in MT-CO1: Evidence of Pathogenicity in Leber Hereditary Optic Neuropathy.Semantic proximity Read ↗

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

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

Co-occurrence of m.1555A>G and m.11778G>A mitochondrial DNA mutations in two Indian families with strikingly different clinical penetrance of Leber hereditary optic neuropathy.Semantic proximity Read ↗

Novel MT-ND5 gene mutation identified in Leber's hereditary optic neuropathy patient using mitochondrial genome sequencing.Semantic proximity Read ↗

The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.Semantic proximity Read ↗

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

A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family.Semantic proximity Read ↗

Leber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel Variant.Semantic proximity Read ↗

Deep sequencing unearths nuclear mitochondrial sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants.Semantic proximity Read ↗

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