(Q37299538)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22155748%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22155748%20AND%20SRC:MED&resulttype=core&format=json

Douglass Matthew Turnbull

18 January 2020

author

5

1 reference

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18 January 2020

William C Copeland

6

1 reference

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18 January 2020

Robert William Taylor

7

object named as

Robert W Taylor

1 reference

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18 January 2020

3

Emma L Blakely

1 reference

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18 January 2020

4

Matthew J Longley

1 reference

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18 January 2020

author name string

Kate Craig

1

1 reference

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18 January 2020

Matthew J Young

2

1 reference

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18 January 2020

publication date

4 December 2011

1 reference

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18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22155748%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

12

1 reference

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18 January 2020

issue

2

1 reference

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18 January 2020

page(s)

313-319

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22155748%20AND%20SRC:MED&resulttype=core&format=json

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

18 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

Biochemical analysis of human POLG2 variants associated with mitochondrial disease.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

A neurological perspective on mitochondrial disease.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

Mitochondrial disorders in the nervous system

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

What causes mitochondrial DNA deletions in human cells?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

Mitochondrial DNA mutations in human colonic crypt stem cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

Role of adenine nucleotide translocator 1 in mtDNA maintenance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

Characterization of the native and recombinant catalytic subunit of human DNA polymerase gamma: identification of residues critical for exonuclease activity and dideoxynucleotide sensitivity

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824628

A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22155748

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.MITO.2011.11.006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22155748%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22155748%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

22155748

1 reference