(Q34241192)

31 July 2017

Defects in mitochondrial DNA replication and human disease (English)

1 reference

31 July 2017

0 references

William C Copeland

1

1 reference

PubMed ID

22176657

31 July 2017

language of work or name

1 reference

1 January 2012

1 reference

Critical Reviews in Biochemistry and Molecular Biology

31 July 2017

1 reference

31 July 2017

47

1 reference

31 July 2017

1

1 reference

31 July 2017

64-74

1 reference

Enzyme kinetics of the mitochondrial deoxyribonucleoside salvage pathway are not sufficient to support rapid mtDNA replication

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Super-resolution microscopy reveals that mammalian mitochondrial nucleoids have a uniform size and frequently contain a single copy of mtDNA.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Biochemical analysis of human POLG2 variants associated with mitochondrial disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Polymerase gamma disease through the ages

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

A cluster of pathogenic mutations in the 3'-5' exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Mouse models of mitochondrial DNA defects and their relevance for human disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Molecular mechanisms of mitochondrial DNA depletion diseases caused by deficiencies in enzymes in purine and pyrimidine metabolism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Inherited mitochondrial diseases of DNA replication

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

DNA replication and transcription in mammalian mitochondria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Depletion of mtDNA: syndromes and genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Differential phenotypes of active site and human autosomal dominant progressive external ophthalmoplegia mutations in Drosophila mitochondrial DNA helicase expressed in Schneider cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Mitochondrial DNA polymerase-gamma and human disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

DNA polymerase gamma in mitochondrial DNA replication and repair.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Consequences of mutations in human DNA polymerase gamma.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

DNA polymerase gamma, the mitochondrial replicase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Reconstitution of a minimal mtDNA replisome in vitro

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Precise determination of mitochondrial DNA copy number in human skeletal and cardiac muscle by a PCR-based assay: lack of change of copy number with age.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Composition and dynamics of human mitochondrial nucleoids

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Mitochondrial DNA depletion and dGK gene mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Altered thymidine metabolism due to defects of thymidine phosphorylase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

The mitochondrial p55 accessory subunit of human DNA polymerase gamma enhances DNA binding, promotes processive DNA synthesis, and confers N-ethylmaleimide resistance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Mitochondrial diseases in man and mouse

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3244805

Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human.

6 July 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Mutation analysis in 16 patients with mtDNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

New mutations in TK2 gene associated with mitochondrial DNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Thymidine phosphorylase mutations cause instability of mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Structure-function defects of the twinkle amino-terminal region in progressive external ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Structure-function defects of the TWINKLE linker region in progressive external ophthalmoplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Differential incorporation and removal of antiviral deoxynucleotides by human DNA polymerase gamma

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Recessive twinkle mutations cause severe epileptic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Molecular diagnosis of Alpers syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Deoxyribonucleotide pool imbalance stimulates deletions in HeLa cell mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409238.2011.632763

The fidelity of human DNA polymerase gamma with and without exonucleolytic proofreading and the p55 accessory subunit

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22176657

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Infusion of platelets transiently reduces nucleoside overload in MNGIE

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22176657

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22176657

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3109/10409238.2011.632763

1 reference

31 July 2017

1 reference

31 July 2017

1 reference

PubMed ID

22176657