Leber Hereditary Optic Neuropathy: Exemplar of an mtDNA Disease (Q45865052)

17 December 2017

title

Leber Hereditary Optic Neuropathy: Exemplar of an mtDNA Disease (English)

1 reference

17 December 2017

Leber hereditary optic neuropathy

main subject

1 reference

Douglas C Wallace

1

1 reference

17 December 2017

Marie T Lott

series ordinal

2

1 reference

17 December 2017

publication date

24 February 2017

1 reference

17 December 2017

Handbook of experimental pharmacology

published in

1 reference

17 December 2017

volume

240

1 reference

17 December 2017

page(s)

339-376

1 reference

17 December 2017

Respiratory complex III is required to maintain complex I in mammalian mitochondria

cites work

1 reference

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

21 January 2018

1 reference

Safety and efficacy of subretinal readministration of a viral vector in large animals to treat congenital blindness

21 January 2018

1 reference

Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration.

21 January 2018

1 reference

Organ-specific shifts in mtDNA heteroplasmy following systemic delivery of a mitochondria-targeted restriction endonuclease

21 January 2018

1 reference

Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs

21 January 2018

1 reference

Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids

21 January 2018

1 reference

AAV2 gene therapy readministration in three adults with congenital blindness.

21 January 2018

1 reference

Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer

21 January 2018

1 reference

Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines.

21 January 2018

1 reference

Partial mitochondrial complex I inhibition induces oxidative damage and perturbs glutamate transport in primary retinal cultures. Relevance to Leber Hereditary Optic Neuropathy (LHON).

21 January 2018

1 reference

Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits

21 January 2018

1 reference

The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes

21 January 2018

1 reference

Downregulation of apoptosis-inducing factor in Harlequin mice induces progressive and severe optic atrophy which is durably prevented by AAV2-AIF1 gene therapy

21 January 2018

1 reference

The sites and topology of mitochondrial superoxide production

21 January 2018

1 reference

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

21 January 2018

1 reference

mtDNA haplogroup X: An ancient link between Europe/Western Asia and North America?

21 January 2018

1 reference

Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation

21 January 2018

1 reference

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

21 January 2018

1 reference

The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.

21 January 2018

1 reference

Cytoplasmic inheritance of chloramphenicol resistance in mouse tissue culture cells

21 January 2018

1 reference

Mitochondrial DNA and human evolution

21 January 2018

1 reference

Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype.

21 January 2018

1 reference

Mitochondrial dysfunction as a cause of optic neuropathies

21 January 2018

1 reference

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

21 January 2018

1 reference

Idebenone treatment in Leber's hereditary optic neuropathy.

21 January 2018

1 reference

Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.

21 January 2018

1 reference

Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy

21 January 2018

1 reference

Ischaemic accumulation of succinate controls reperfusion injury through mitochondrial ROS.

21 January 2018

1 reference

A Unifying Mechanism for Mitochondrial Superoxide Production during Ischemia-Reperfusion Injury

21 January 2018

1 reference

Oxidative stress and mitochondrial dysfunction in glaucoma

21 January 2018

1 reference

Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age

21 January 2018

1 reference

Mitochondrial DNA disease: new options for prevention

21 January 2018

1 reference

The inheritance of pathogenic mitochondrial DNA mutations

21 January 2018

1 reference

Mitochondrial medicine: to a new era of gene therapy for mitochondrial DNA mutations

21 January 2018

1 reference

Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-Induced apoptosis

21 January 2018

1 reference

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

21 January 2018

1 reference

Pathogenic mitochondrial DNA mutations are common in the general population

21 January 2018

1 reference

Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction

21 January 2018

1 reference

Initial experience in the treatment of inherited mitochondrial disease with EPI-743.

21 January 2018

1 reference

Increased retinal mtDNA damage in the CFH variant associated with age-related macular degeneration

21 January 2018

1 reference

What limits the allotopic expression of nucleus-encoded mitochondrial genes? The case of the chimeric Cox3 and Atp6 genes.

21 January 2018

1 reference

Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy

21 January 2018

1 reference

Protection against oxidant-induced apoptosis by exogenous glutathione in Leber hereditary optic neuropathy cybrids

21 January 2018

1 reference

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy

21 January 2018

1 reference

Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways

21 January 2018

1 reference

The effects of idebenone on mitochondrial bioenergetics

21 January 2018

1 reference

Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups.

21 January 2018

1 reference

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

21 January 2018

1 reference

Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy

21 January 2018

1 reference

Efficiency and safety of AAV-mediated gene delivery of the human ND4 complex I subunit in the mouse visual system

21 January 2018

1 reference

Meiotic breakpoint mapping of a proposed X linked visual loss susceptibility locus in Leber's hereditary optic neuropathy

21 January 2018

1 reference

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

21 January 2018

1 reference

MitoTALEN: A General Approach to Reduce Mutant mtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases

21 January 2018

1 reference

Mitonuclear protein imbalance as a conserved longevity mechanism

21 January 2018

1 reference

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

21 January 2018

1 reference

Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease.

21 January 2018

1 reference

Genetic variants of TP53 and EPHX1 in Leber's hereditary optic neuropathy and their relationship to age at onset

21 January 2018

1 reference

Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans.

21 January 2018

1 reference

Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's Hereditary Optic Neuropathy

21 January 2018

1 reference

An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy

21 January 2018

1 reference

Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns

21 January 2018

1 reference

Pharmacologic activation of mitochondrial biogenesis exerts widespread beneficial effects in a transgenic mouse model of Huntington's disease

21 January 2018

1 reference

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

21 January 2018

1 reference

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

21 January 2018

1 reference

Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations.

21 January 2018

1 reference

Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics

21 January 2018

1 reference

Mitochondrial DNA haplogroups confer differences in risk for age-related macular degeneration: a case control study.

21 January 2018

1 reference

Mitochondrial DNA variants mediate energy production and expression levels for CFH, C3 and EFEMP1 genes: implications for age-related macular degeneration

21 January 2018

1 reference

Inherited mitochondrial DNA variants can affect complement, inflammation and apoptosis pathways: insights into mitochondrial-nuclear interactions

21 January 2018

1 reference

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

21 January 2018

1 reference

A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy

21 January 2018

1 reference

Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside

21 January 2018

1 reference

Induction of rapid and highly efficient expression of the human ND4 complex I subunit in the mouse visual system by self-complementary adeno-associated virus.

21 January 2018

1 reference

Monogenic Mitochondrial Disorders

21 January 2018

1 reference

Leber hereditary optic neuropathy gene therapy clinical trial recruitment: year 1.

21 January 2018

1 reference

Rapid Mitochondrial DNA Segregation in Primate Preimplantation Embryos Precedes Somatic and Germline Bottleneck

21 January 2018

1 reference

Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation

21 January 2018

1 reference

Mouse mtDNA mutant model of Leber hereditary optic neuropathy.

21 January 2018

1 reference

Emerging Mitochondrial Therapeutic Targets in Optic Neuropathies

21 January 2018

1 reference

Safety and efficacy of gene transfer for Leber's congenital amaurosis

21 January 2018

1 reference

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

21 January 2018

1 reference

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy

21 January 2018

1 reference

Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus

21 January 2018

1 reference

Cell therapy using retinal progenitor cells shows therapeutic effect in a chemically-induced rotenone mouse model of Leber hereditary optic neuropathy.

21 January 2018

1 reference

Protection by the NDI1 gene against neurodegeneration in a rotenone rat model of Parkinson's disease

21 January 2018

1 reference

Successful amelioration of mitochondrial optic neuropathy using the yeast NDI1 gene in a rat animal model

21 January 2018

1 reference

Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy?

21 January 2018

1 reference

MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis

21 January 2018

1 reference

The structure of human mitochondrial DNA variation.

21 January 2018

1 reference

Adaptive selection of mitochondrial complex I subunits during primate radiation

21 January 2018

1 reference

How mitochondria produce reactive oxygen species

21 January 2018

1 reference

Differential Expression of Complement Markers in Normal and AMD Transmitochondrial Cybrids

21 January 2018

1 reference

Prophylaxis for second eye involvement in leber hereditary optic neuropathy: an open-labeled, nonrandomized multicenter trial of topical brimonidine purite

21 January 2018

1 reference

Gender effect on non-motor symptoms in Parkinson's disease: are men more at risk?

21 January 2018

1 reference

Multiple sclerosis associated with Leber's Hereditary Optic Neuropathy

21 January 2018

1 reference

Yeast NDI1 improves oxidative phosphorylation capacity and increases protection against oxidative stress and cell death in cells carrying a Leber's hereditary optic neuropathy mutation

21 January 2018

1 reference

Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants

21 January 2018

1 reference

Functional estrogen receptors in the mitochondria of breast cancer cells

21 January 2018

1 reference

Allotopic expression of mitochondrial-encoded genes in mammals: achieved goal, undemonstrated mechanism or impossible task?

21 January 2018

1 reference

The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy

21 January 2018

1 reference

Treatment for mitochondrial disorders

21 January 2018

1 reference

Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations

21 January 2018

1 reference

Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand

21 January 2018

1 reference

Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming

21 January 2018

1 reference

The rise of mitochondria in medicine

21 January 2018

1 reference

Targeting estrogen receptor β as preventive therapeutic strategy for Leber's hereditary optic neuropathy.

21 January 2018

1 reference

Superoxide is produced by the reduced flavin in mitochondrial complex I: a single, unified mechanism that applies during both forward and reverse electron transfer

21 January 2018

1 reference

Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland

21 January 2018

1 reference

Suppression of complex I gene expression induces optic neuropathy

21 January 2018

1 reference

Optic neuropathy induced by reductions in mitochondrial superoxide dismutase

21 January 2018

1 reference

Use of mitochondrial antioxidant defenses for rescue of cells with a Leber hereditary optic neuropathy-causing mutation

21 January 2018

1 reference

The mutant human ND4 subunit of complex I induces optic neuropathy in the mouse

21 January 2018

1 reference

Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families

21 January 2018

1 reference

Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy.

21 January 2018

1 reference

Selective elimination of mitochondrial mutations in the germline by genome editing

21 January 2018

1 reference

Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA.

21 January 2018

1 reference

Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy.

21 January 2018

1 reference

Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy

21 January 2018

1 reference

Antioxidants partially restore glutamate transport defect in leber hereditary optic neuropathy cybrids

21 January 2018

1 reference

Visual electrophysiologic findings in patients from an extensive Brazilian family with Leber's hereditary optic neuropathy

21 January 2018

1 reference

Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells

21 January 2018

1 reference

Prevalence of mitochondrial DNA disease in adults

21 January 2018

1 reference

Extension of murine life span by overexpression of catalase targeted to mitochondria

21 January 2018

1 reference

Molecular remedy of complex I defects: Rotenone-insensitive internal NADH-quinone oxidoreductase of Saccharomyces cerevisiae mitochondria restores the NADH oxidase activity of complex I-deficient mammalian cells

21 January 2018

1 reference

Use of the NADH-quinone oxidoreductase (NDI1) gene of Saccharomyces cerevisiae as a possible cure for complex I defects in human cells

21 January 2018

1 reference

A single-subunit NADH-quinone oxidoreductase renders resistance to mammalian nerve cells against complex I inhibition

21 January 2018

1 reference

Functional expression of the single subunit NADH dehydrogenase in mitochondria in vivo: a potential therapy for complex I deficiencies

21 January 2018

1 reference

In vivo complementation of complex I by the yeast Ndi1 enzyme. Possible application for treatment of Parkinson disease

21 January 2018

1 reference

Heteroplasmy of mouse mtDNA is genetically unstable and results in altered behavior and cognition

21 January 2018

1 reference

Positive contribution of pathogenic mutations in the mitochondrial genome to the promotion of cancer by prevention from apoptosis

21 January 2018

1 reference

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

21 January 2018

1 reference

Inhibition of mitochondrial function induces an integrated stress response in oligodendroglia

21 January 2018

1 reference

Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration

21 January 2018

1 reference

Manipulating mitochondrial DNA heteroplasmy by a mitochondrially targeted restriction endonuclease

21 January 2018

1 reference

Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup

21 January 2018

1 reference

The role of the 3' untranslated region in mRNA sorting to the vicinity of mitochondria is conserved from yeast to human cells

21 January 2018

1 reference

Long mRNAs coding for yeast mitochondrial proteins of prokaryotic origin preferentially localize to the vicinity of mitochondria

21 January 2018

1 reference

Towards germline gene therapy of inherited mitochondrial diseases

21 January 2018

1 reference

Complementation of mitochondrial electron transport chain by manipulation of the NAD /NADH ratio

21 January 2018

1 reference

Small mitochondrial-targeted RNAs modulate endogenous mitochondrial protein expression in vivo

21 January 2018

1 reference

Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines

21 January 2018

1 reference

Mitochondrial DNA haplogroups associated with age-related macular degeneration.

21 January 2018

1 reference

Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy

21 January 2018

1 reference

Male prevalence of acquired color vision defects in asymptomatic carriers of Leber's hereditary optic neuropathy.

21 January 2018

1 reference

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

21 January 2018

1 reference

Assignment of the Chloramphenicol Resistance Gene to Mitochondrial Deoxyribonucleic Acid and Analysis of Its Expression in Cultured Human Cells

21 January 2018

1 reference

A mitochondrial bioenergetic etiology of disease

21 January 2018

1 reference

Bioenergetics in human evolution and disease: implications for the origins of biological complexity and the missing genetic variation of common diseases

21 January 2018

1 reference

Mitochondrial DNA variation in human radiation and disease

21 January 2018

1 reference

Energetics, epigenetics, mitochondrial genetics

21 January 2018

1 reference

Cytoplasmic transfer of chloramphenicol resistance in human tissue culture cells

21 January 2018

1 reference

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

21 January 2018

1 reference

Mitochondrial energetics and therapeutics

21 January 2018

1 reference

PNPASE regulates RNA import into mitochondria

21 January 2018

1 reference

PNPASE and RNA trafficking into mitochondria

21 January 2018

1 reference

Correcting human mitochondrial mutations with targeted RNA import

21 January 2018

1 reference

RETRACTED: Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype

21 January 2018

1 reference

Retraction Notice to: Activation of the PPAR/PGC-1α Pathway Prevents a Bioenergetic Deficit and Effectively Improves a Mitochondrial Myopathy Phenotype

21 January 2018

1 reference

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

21 January 2018

1 reference

Genetic Drift Can Compromise Mitochondrial Replacement by Nuclear Transfer in Human Oocytes

21 January 2018

1 reference

Gene delivery to mitochondria by targeting modified adenoassociated virus suppresses Leber's hereditary optic neuropathy in a mouse model.

21 January 2018

1 reference

Consequences of zygote injection and germline transfer of mutant human mitochondrial DNA in mice.

21 January 2018

1 reference

Therapeutic Approaches to Inherited Optic Neuropathies

21 January 2018

1 reference

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies

21 January 2018

1 reference

A multiple sclerosis-like disorder in patients withOPA1mutations

21 January 2018

1 reference

Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation

21 January 2018

1 reference

Stable transformation of CHO Cells and human NARP cybrids confers oligomycin resistance (oli(r)) following transfer of a mitochondrial DNA-encoded oli(r) ATPase6 gene to the nuclear genome: a model system for mtDNA gene therapy.

21 January 2018

1 reference

Leber’s Hereditary Optic Neuropathy

21 January 2018

1 reference

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

21 January 2018

1 reference

Genetics: Mitochondrial DNA in evolution and disease

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1007/164_2017_2

1 reference

17 December 2017

1 reference

17 December 2017