Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes (Q35250582)

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4 November 2019

title

Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes (English)

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4 November 2019

1 reference

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Zofia M Chrzanowska-Lightowlers

3

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4 November 2019

Laurence Bindoff

4

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4 November 2019

author name string

Bidooki SK

1

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4 November 2019

Johnson MA

2

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4 November 2019

Lightowlers RN

5

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4 November 2019

language of work or name

English

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publication date

1 June 1997

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American Journal of Human Genetics

4 November 2019

published in

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4 November 2019

volume

60

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4 November 2019

issue

6

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4 November 2019

page(s)

1430-1438

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

4 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716139

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.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716139

Mammalian mitochondria possess homologous DNA recombination activity

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716139

How rapidly does the human mitochondrial genome evolve?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716139

Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716139

Length heteroplasmy in the first hypervariable segment of the human mtDNA control region

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716139

Human aging is associated with stochastic somatic mutations of mitochondrial DNA.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716139

Sequence and organization of the human mitochondrial genome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716139

Isolation and characterization of human muscle cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716139

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716139

Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study.

27 July 2018

1 reference

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Diseases of the mitochondrial DNA.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716139

Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716139

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716139

Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716139

Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716139

Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716139

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

26 September 2018

1 reference

12 December 2020

Measurement of the activity of individual respiratory chain complexes in isolated fibroblast mitochondria

1 reference

12 December 2020

Cytochromec oxidase activity in single muscle fibers: Assay techniques and diagnostic applications

1 reference

12 December 2020

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

1 reference

12 December 2020

Multiple independent occurrence of the 3243 mutation in mitochondrial tRNA(leuUUR) in patients with the MELAS phenotype

1 reference

12 December 2020

MELAS- and kearns-sayre-type with myopathy and autoimmune polyendocrinopahy

1 reference

12 December 2020

Identifiers

DOI

10.1086/515460

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199564%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199564%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

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