(Q40697777)

22 September 2017

1 reference

title

Mitochondrial DNA mutations in diseases of energy metabolism (English)

1 reference

22 September 2017

0 references

D C Wallace

1

1 reference

22 September 2017

1 June 1994

1 reference

Journal of Bioenergetics and Biomembranes

22 September 2017

1 reference

22 September 2017

26

1 reference

22 September 2017

241-250

1 reference

22 September 2017

3

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00763096

22 September 2017

0 references

cites work

The biologic clock: the mitochondria?

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF00763096

Hypoxemia is associated with mitochondrial DNA damage and gene induction. Implications for cardiac disease

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region

1 reference

12 December 2020

Porin interaction with hexokinase and glycerol kinase: Metabolic microcompartmentation at the outer mitochondrial membrane

1 reference

12 December 2020

Mitochondrial genetics: a paradigm for aging and degenerative diseases?

1 reference

12 December 2020

Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations

1 reference

12 December 2020

Mitochondrial DNA and human evolution

1 reference

12 December 2020

Deletion of blood mitochondrial DNA in pancytopenia

1 reference

12 December 2020

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high

1 reference

12 December 2020

Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations

1 reference

12 December 2020

Hexose metabolism in pancreatic islets: regulation of mitochondrial hexokinase binding.

1 reference

12 December 2020

Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Geographic variation in human mitochondrial DNA from Papua New Guinea

1 reference

12 December 2020

Length mutations in human mitochondrial DNA

1 reference

12 December 2020

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain

1 reference

12 December 2020

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

12 December 2020

Age-associated oxygen damage and mutations in mitochondrial DNA in human hearts

1 reference

12 December 2020

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

1 reference

12 December 2020

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy

1 reference

12 December 2020

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.

1 reference

12 December 2020

Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus

1 reference

12 December 2020

Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation

1 reference

12 December 2020

mtDNA and Y-chromosome polymorphisms in four Native American populations from southern Mexico

1 reference

12 December 2020

Mitochondrial role in cell aging

1 reference

12 December 2020

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

1 reference

12 December 2020

Variable genotype of Leber's hereditary optic neuropathy patients.

1 reference

12 December 2020

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy

1 reference

12 December 2020

Mitochondrial DNA mutations in epilepsy and neurological disease

1 reference

12 December 2020

Cytochrome b mutations in Leber hereditary optic neuropathy

1 reference

12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

12 December 2020

Maternal inheritance of human mitochondrial DNA

1 reference

12 December 2020

Mitochondrial mutations may increase oxidative stress: implications for carcinogenesis and aging?

1 reference

12 December 2020

Mitochondrial DNA "clock" for the Amerinds and its implications for timing their entry into North America

1 reference

12 December 2020

Asian affinities and continental radiation of the four founding Native American mtDNAs

1 reference

12 December 2020

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

The structure of human mitochondrial DNA variation.

1 reference

12 December 2020

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

1 reference

12 December 2020

Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR

1 reference

12 December 2020

A mitochondrial tRNA anticodon swap associated with a muscle disease

1 reference

12 December 2020

Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease.

1 reference

12 December 2020

Detection of a specific mitochondrial DNA deletion in tissues of older humans

1 reference

12 December 2020

Ethnic variation in Hpa 1 endonuclease cleavage patterns of human mitochondrial DNA

1 reference

12 December 2020

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

1 reference

12 December 2020

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

1 reference

12 December 2020

Diseases of the mitochondrial DNA.

1 reference

12 December 2020

mtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans

1 reference

12 December 2020

Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism

1 reference

12 December 2020

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

1 reference

12 December 2020

Dramatic founder effects in Amerindian mitochondrial DNAs

1 reference

12 December 2020

Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

1 reference

12 December 2020

Analyses of mitochondrial respiratory chain function and mitochondrial DNA deletion in human skeletal muscle: effect of ageing

1 reference

12 December 2020

Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation

1 reference

12 December 2020

Multiple mitochondrial DNA deletions in an elderly human individual.

1 reference

12 December 2020

Mitochondrial DNA mutations as an important contributor to ageing and degenerative diseases

1 reference

12 December 2020

Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form.

1 reference

12 December 2020

A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease

1 reference

12 December 2020

A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues

1 reference

12 December 2020

Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation

1 reference

12 December 2020

Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.

1 reference

12 December 2020

Marked decrease of mitochondrial DNA with multiple deletions in a patient with familial mitochondrial myopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages

1 reference

12 December 2020

Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude

1 reference

12 December 2020

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

1 reference

12 December 2020

Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease

1 reference

12 December 2020

Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes

1 reference

12 December 2020

Glucose sensing in pancreatic islet beta cells: the key role of glucokinase and the glycolytic intermediates

1 reference

12 December 2020

Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships

1 reference

12 December 2020

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

1 reference

12 December 2020

An Asian-specific 9-bp deletion of mitochondrial DNA is frequently found in Polynesians

1 reference

12 December 2020

Transcriptional control of nuclear genes for the mitochondrial muscle ADP/ATP translocator and the ATP synthase beta subunit. Multiple factors interact with the OXBOX/REBOX promoter sequences

1 reference

12 December 2020

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

1 reference

12 December 2020

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

1 reference

12 December 2020

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1 reference

12 December 2020

Amerindian mitochondrial DNAs have rare Asian mutations at high frequencies, suggesting they derived from four primary maternal lineages

1 reference

12 December 2020

Liver mitochondrial respiratory functions decline with age

1 reference

12 December 2020

DECLINE IN SKELETAL MUSCLE MITOCHONDRIAL RESPIRATORY CHAIN FUNCTION: POSSIBLE FACTOR IN AGEING

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00763096

1 reference

22 September 2017

1 reference

PubMed ID

8077179