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Mitochondrial DNA mutations and pathogenesis

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Europe PubMed Central

PubMed publication ID

3 October 2017

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Europe PubMed Central

Mitochondrial DNA mutations and pathogenesis (English)

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Europe PubMed Central

PubMed publication ID

3 October 2017

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mitochondrial DNA

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author name string

Schon EA

1

1 reference

Europe PubMed Central

PubMed publication ID

3 October 2017

Bonilla E

2

1 reference

Europe PubMed Central

PubMed publication ID

3 October 2017

DiMauro S

3

1 reference

Europe PubMed Central

PubMed publication ID

3 October 2017

publication date

1 April 1997

1 reference

Europe PubMed Central

PubMed publication ID

3 October 2017

Journal of Bioenergetics and Biomembranes

1 reference

Europe PubMed Central

PubMed publication ID

3 October 2017

29

1 reference

Europe PubMed Central

PubMed publication ID

3 October 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

3 October 2017

131-149

1 reference

Europe PubMed Central

PubMed publication ID

3 October 2017

Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myoclonic Epilepsy with Ragged‐red Fibers (MERRF): An Immunohistochemical Study of the Brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

tRNA processing in human mitochondrial disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence and organization of the human mitochondrial genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and diabetes mellitus: molecular genetic analysis and family study.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metabolic compartmentation and substrate channelling in muscle cells. Role of coupled creatine kinases in in vivo regulation of cellular respiration--a synthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The 3243 MELAS Mutation in a Pedigree with MERRF

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Involvement of choroid plexus in mitochondrial encephalomyopathy (MELAS).

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Termination of transcription in human mitochondria: identification and purification of a DNA binding protein factor that promotes termination

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metabolic imaging in tumours by means of bioluminescence

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new mitochondrial DNA deletion associated with diabetic amyotrophy, diabetic myoatrophy and diabetic fatty liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNALeu(UUR) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An autopsy case of mitochondrial encephalomyopathy (MELAS) with special reference to extra-neuromuscular abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial dysfunction in multiple symmetrical lipomatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytochrome c oxidase activity is deficient in blood vessels of patients with myoclonus epilepsy with ragged-red fibers

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Coordination of ATP production and consumption in brain: parallel regulation of cytochrome oxidase and Na+, K(+)-ATPase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MITOMAP: an update on the status of the human mitochondrial genome database

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficient and specific amplification of identified partial duplications of human mitochondrial DNA by long PCR

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Actin-dependent light-induced translocation of mitochondria and ER cisternae in the photoreceptor cells of the locust Schistocerca gregaria.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relatives of MELAS patients in a family with the tRNA(Leu(UUR)) mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The pattern of transcription of the human mitochondrial rRNA genes reveals two overlapping transcription units

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial encephalomyopathies: CT and MRI findings and correlations with clinical features

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ATP and brain function

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Compartmentation of mitochondrial creatine phosphokinase. I. Direct demonstration of compartmentation with the use of labeled precursors.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Actin-dependent mitochondrial motility in mitotic yeast and cell-free systems: identification of a motor activity on the mitochondrial surface

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tandem direct duplications of mitochondrial DNA in mitochondrial myopathy: analysis of nucleotide sequence and tissue distribution.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Novel mtDNA Point Mutation in Maternally Inherited Cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MmtDB: a Metazoa mitochondrial DNA variants database

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial encephalomyopathies: clinical and molecular analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial diabetes revisited

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Compartmentation of ATP synthesis and utilization in smooth muscle: roles of aerobic glycolysis and creatine kinase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vitro transcription of human mitochondrial DNA: accurate termination requires a region of DNA sequence that can function bidirectionally

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial gene mutation and insulin-deficient type of diabetes mellitus

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An A-to-G transition at nucleotide pair 11084 in the ND4 gene may be an mtDNA polymorphism

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The regulation of bidirectional mitochondrial transport is coordinated with axonal outgrowth

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two cases of NADH-coenzyme Q reductase deficiency: relationship to MELAS syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA and RNA processing in MELAS.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ocular pathology of MELAS syndrome with mitochondrial DNA nucleotide 3243 point mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of the mitochondrial DNA in a case of de Toni-Debr�-Fanconi syndrome and Pearson syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mitochondrial tRNA anticodon swap associated with a muscle disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA is required for regulation of glucose-stimulated insulin secretion in a mouse pancreatic beta cell line, MIN6.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Compilation of tRNA sequences and sequences of tRNA genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intracellular compartmentation, structure and function of creatine kinase isoenzymes in tissues with high and fluctuating energy demands: the 'phosphocreatine circuit' for cellular energy homeostasis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Local probes and heterogeneous catalysis: a case study of a mitochondria-luciferase-hexokinase coupled system

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutant mtDNA at 1555 A to G in 12S rRNA gene and hypersusceptibility of mitochondrial translation to streptomycin can be co-transferred to rho 0 HeLa cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proton MR spectroscopic characterization of differences in regional brain metabolic abnormalities in mitochondrial encephalomyopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duplications of mitochondrial DNA in Kearns-Sayre syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased presynaptic ATP levels coupled to synaptic activity at the crayfish neuromuscular junction.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial leucine tRNA mutation in neurological diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological, and molecular genetic study

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The aleu207-->arg mutation in F1F0-ATP synthase from Escherichia coli. A model for human mitochondrial disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MELAS: clinical features, biochemistry, and molecular genetics

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A heteroplasmic point mutation of mitochondrial tRNALeu(CUN) in non-lymphoid haemopoietic cell lineages from a patient with acquired idiopathic sideroblastic anaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Geographical mapping of metabolites in biological tissue with quantitative bioluminescence and single photon imaging

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kearns-Sayre syndrome with muscle mitochondrial DNA deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oncocytic transformation of choroid plexus epithelium

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A molecular basis for human hypersensitivity to aminoglycoside antibiotics

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rearranged mitochondrial genomes are present in human oocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional and molecular mitochondrial abnormalities associated with a C --> T transition at position 3256 of the human mitochondrial genome. The effects of a pathogenic mitochondrial tRNA point mutation in organelle translation and RNA processing

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new point mutation associated with mitochondrial encephalomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Melas: an original case and clinical criteria for diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mitochondrial tRNA(Leu)(UUR)) mutation in MELAS: a model for pathogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Further evidence for a predominantly maternal transmission of maturity-onset type diabetes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/9239539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/A:1022685929755

1 reference

Europe PubMed Central

PubMed publication ID

3 October 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 October 2017

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