(Q34389543)

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An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy

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Europe PubMed Central

PubMed publication ID

1 August 2017

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Isabelle Nelson

7

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I P Nelson

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Europe PubMed Central

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1 August 2017

Patrick F. Chinnery

4

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P F Chinnery

1 reference

Europe PubMed Central

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1 August 2017

Zofia M Chrzanowska-Lightowlers

1 reference

ORCID Public Data File 2021

10

object named as

M G Hanna

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1 August 2017

author name string

K M Clark

1

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Europe PubMed Central

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1 August 2017

R W Taylor

2

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Europe PubMed Central

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1 August 2017

M A Johnson

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Z M Chrzanowska-Lightowlers

5

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

R M Andrews

6

1 reference

Europe PubMed Central

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1 August 2017

N W Wood

8

1 reference

Europe PubMed Central

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1 August 2017

P J Lamont

9

1 reference

Europe PubMed Central

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1 August 2017

R N Lightowlers

11

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Europe PubMed Central

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1 August 2017

D M Turnbull

12

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1 August 2017

language of work or name

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publication date

1 May 1999

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Europe PubMed Central

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1 August 2017

American Journal of Human Genetics

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Europe PubMed Central

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1 August 2017

64

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Europe PubMed Central

PubMed publication ID

1 August 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

1330-1339

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Mitochondrial DNA mutations and pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

Reversal of a mitochondrial DNA defect in human skeletal muscle.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

In vivo control of respiration by cytochrome c oxidase in wild-type and mitochondrial DNA mutation-carrying human cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

Classification of European mtDNAs from an analysis of three European populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

In vivo labeling and analysis of human mitochondrial translation products

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

Seminars in medicine of the Beth Israel Hospital, Boston. Mitochondrial DNA and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

Sequence and organization of the human mitochondrial genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

Isolation and characterization of full-length cDNA clones for human alpha-, beta-, and gamma-actin mRNAs: skeletal but not cytoplasmic actins have an amino-terminal cysteine that is subsequently removed

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

Evidence for the sequential assembly of cytochrome oxidase subunits in rat liver mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

Studies on the assembly of cytochrome oxidase in isolated rat hepatocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

Diseases of the mitochondrial DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

6 July 2018

Clinical features, investigation, and management of patients with defects of mitochondrial DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

27 October 2018

A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377869

27 October 2018

RAPID EXAMINATION OF MUSCLE TISSUE. AN IMPROVED TRICHROME METHOD FOR FRESH-FROZEN BIOPSY SECTIONS

1 reference

https://pubmed.ncbi.nlm.nih.gov/10205264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10205264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial encephalomyopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/10205264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/10205264

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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