Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve? (Q41547379)

3 October 2017

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title

Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve? (English)

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Leber hereditary optic neuropathy

3 October 2017

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N. Howell

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9239541

9 November 2024

language of work or name

English

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9239541

9 November 2024

publication date

1 April 1997

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3 October 2017

April 1997

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9239541

Journal of Bioenergetics and Biomembranes

9 November 2024

published in

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3 October 2017

volume

29

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3 October 2017

issue

2

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3 October 2017

page(s)

165-173

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Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia

3 October 2017

cites work

1 reference

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Optic disk risk factors for nonarteritic anterior ischemic optic neuropathy.

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Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy

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Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON)

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A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance

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Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing

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12 December 2020

Evidence of constriction of optic nerve axons at the lamina cribrosa in the normotensive eye in humans and other mammals

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12 December 2020

Histochemical demonstration of glycogen in neurons of the cat retina

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12 December 2020

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy

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12 December 2020

The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity.

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12 December 2020

Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.

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12 December 2020

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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12 December 2020

Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.

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12 December 2020

Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia

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12 December 2020

Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations

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12 December 2020

Mechanisms of optic nerve damage in primary open angle glaucoma

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12 December 2020

The quantitative histochemistry of the retina

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12 December 2020

Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation

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12 December 2020

Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees

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12 December 2020

Association of the 11778 mitochondrial DNA mutation and demyelinating disease

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12 December 2020

Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications about its role in causing Leber hereditary optic neuropathy

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12 December 2020

Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations

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12 December 2020

The histochemical localization of cytochrome oxidase in the retina and lateral geniculate nucleus of the ferret, cat, and monkey, with particular reference to retinal mosaics and ON/OFF-center visual channels

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Platelet mitochondrial function in Leber's hereditary optic neuropathy

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Annual review in neuro-ophthalmology. The anterior visual pathways.

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When does bilateral optic atrophy become Leber hereditary optic neuropathy?

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12 December 2020

A case-control study of Leber's hereditary optic neuropathy

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Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation

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12 December 2020

Energy metabolism of rabbit retina as related to function: high cost of Na transport

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12 December 2020

Mitochondrial gene mutations and human diseases: a prolegomenon

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12 December 2020

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant

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12 December 2020

Aging of the human retina. Differential loss of neurons and retinal pigment epithelial cells

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12 December 2020

Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation

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A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy.

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12 December 2020

Leber's hereditary optic neuropathy and complex I deficiency in muscle

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Adenosine triphosphate deficiency: a genre of optic neuropathy

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12 December 2020

Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene

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12 December 2020

Leber hereditary optic neuropathy: Mitochondrial mutations and degeneration of the optic nerve

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Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy

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Aging, energy, and oxidative stress in neurodegenerative diseases.

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Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene.

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12 December 2020

The mitochondrial DNA mutation ND6*14,484C associated with leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain

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12 December 2020

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

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12 December 2020

Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.

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12 December 2020

Evidence for preserved direct pupillary light response in Leber's hereditary optic neuropathy

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12 December 2020

A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology

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12 December 2020

Antibodies to human optic nerve in Leber's hereditary optic neuropathy

1 reference

12 December 2020

Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases

1 reference

12 December 2020

MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.

1 reference

12 December 2020

Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)

1 reference

12 December 2020

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees

1 reference

12 December 2020

Identifiers

DOI

10.1023/A:1022690030664

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Dimensions Publication ID

3 October 2017

1000912124

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