POLG2 disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity. (Q35999327)

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English	POLG2 disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity.	scientific article

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scholarly article

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18 February 2020

POLG2 disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity (English)

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18 February 2020

DNA polymerase gamma, catalytic subunit

1 reference

GOA release 2020-03-11

DNA polymerase gamma 2, accessory subunit

1 reference

GOA release 2020-03-11

positive regulation of DNA-directed DNA polymerase activity

1 reference

GOA release 2020-03-11

William C Copeland

5

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Europe PubMed Central

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18 February 2020

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Matthew J Young

1

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18 February 2020

Margaret M Humble

2

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18 February 2020

Karen L DeBalsi

3

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18 February 2020

Kathie Y Sun

4

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18 February 2020

publication date

29 June 2015

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18 February 2020

Human Molecular Genetics

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18 February 2020

24

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18 February 2020

18

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18 February 2020

5184-5197

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18 February 2020

Keeping mtDNA in shape between generations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550827

2 October 2017

Defects of mitochondrial DNA replication.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550827

2 October 2017

Modulation of mitochondrial bioenergetics in a skeletal muscle cell line model of mitochondrial toxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550827

2 October 2017

Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550827

2 October 2017

Polg2 is essential for mammalian embryogenesis and is required for mtDNA maintenance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550827

2 October 2017

Mechanisms of protein sorting in mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550827

2 October 2017

Is There a Link between Mitochondrial Reserve Respiratory Capacity and Aging?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550827

2 October 2017

A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550827

2 October 2017

Superresolution fluorescence imaging of mitochondrial nucleoids reveals their spatial range, limits, and membrane interaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550827

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550827

2 October 2017

Biochemical analysis of human POLG2 variants associated with mitochondrial disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550827

2 October 2017

The mitochondrial UPR - protecting organelle protein homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550827

2 October 2017

A single mutation in human mitochondrial DNA polymerase Pol gammaA affects both polymerization and proofreading activities of only the holoenzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550827

2 October 2017

Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations.

1 reference

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2 October 2017

Nutrient-sensitized screening for drugs that shift energy metabolism from mitochondrial respiration to glycolysis

1 reference

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2 October 2017

Each monomer of the dimeric accessory protein for human mitochondrial DNA polymerase has a distinct role in conferring processivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550827

2 October 2017

Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations

1 reference

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2 October 2017

Importance of the bioenergetic reserve capacity in response to cardiomyocyte stress induced by 4-hydroxynonenal

1 reference

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2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550827

2 October 2017

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550827

2 October 2017

Advances in measuring cellular bioenergetics using extracellular flux

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2 October 2017

What causes mitochondrial DNA deletions in human cells?

1 reference

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2 October 2017

Circumventing the Crabtree Effect: Replacing Media Glucose with Galactose Increases Susceptibility of HepG2 Cells to Mitochondrial Toxicants

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2 October 2017

Protein-misfolding diseases and chaperone-based therapeutic approaches

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2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550827

2 October 2017

A novel processive mechanism for DNA synthesis revealed by structure, modeling and mutagenesis of the accessory subunit of human mitochondrial DNA polymerase

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2 October 2017

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

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2 October 2017

Functional human mitochondrial DNA polymerase gamma forms a heterotrimer

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2 October 2017

Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550827

2 October 2017

Composition and dynamics of human mitochondrial nucleoids

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2 October 2017

DNA binding properties of human pol gammaB.

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2 October 2017

The accessory subunit of DNA polymerase gamma is essential for mitochondrial DNA maintenance and development in Drosophila melanogaster

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2 October 2017

Crystal structure and deletion analysis show that the accessory subunit of mammalian DNA polymerase gamma, Pol gamma B, functions as a homodimer

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2 October 2017

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2 October 2017

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

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2 October 2017

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2 October 2017

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2 October 2017

Polymerase subunit gamma 2 affects porcine oocyte maturation and subsequent embryonic development

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The influence of the DNA polymerase gamma accessory subunit on base excision repair by the catalytic subunit

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12 December 2020

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inferred from PubMed ID database lookup

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10.1093/HMG/DDV240

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Europe PubMed Central

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18 February 2020

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Europe PubMed Central

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18 February 2020

PubMed publication ID

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Europe PubMed Central

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18 February 2020

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