(Q34144719)

English

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

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659899%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

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

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659899%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

mitochondrial DNA

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William C Copeland

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659899%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

author name string

Matthew J Longley

1

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8 February 2020

Margaret M Humble

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659899%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Farida S Sharief

3

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8 February 2020

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publication date

20 July 2010

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8 February 2020

Journal of Biological Chemistry

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8 February 2020

285

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8 February 2020

39

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659899%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

29690-29702

1 reference

Europe PubMed Central

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8 February 2020

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Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2943296/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

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

1 reference

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5 July 2018

Residues in the central beta-hairpin of the DNA helicase of bacteriophage T7 are important in DNA unwinding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Dynamic effects of cofactors and DNA on the oligomeric state of human mitochondrial DNA helicase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Mitochondrial energetics and therapeutics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

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=2943296

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Physiological and biochemical defects in carboxyl-terminal mutants of mitochondrial DNA helicase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Communication between subunits critical to DNA binding by hexameric helicase of bacteriophage T7.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Inherited mitochondrial diseases of DNA replication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Structure and mechanism of helicases and nucleic acid translocases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Modular architecture of the hexameric human mitochondrial DNA helicase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Mechanisms of a ring shaped helicase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Investigation on mtDNA deletions and twinkle gene mutation (G1423C) in Iranian patients with chronic progressive external opthalmoplagia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Two families with autosomal dominant progressive external ophthalmoplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Reconstitution of a minimal mtDNA replisome in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

The crystal structure of the bifunctional primase-helicase of bacteriophage T7

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

TWINKLE Has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

New insights into the bioenergetics of mitochondrial disorders using intracellular ATP reporters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Composition and dynamics of human mitochondrial nucleoids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Clinical and molecular features of adPEO due to mutations in the Twinkle gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Structure and function of hexameric helicases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Role of adenine nucleotide translocator 1 in mtDNA maintenance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

The bacterial replicative helicase DnaB evolved from a RecA duplication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

The linker region between the helicase and primase domains of the bacteriophage T7 gene 4 protein is critical for hexamer formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Computational method to predict mitochondrially imported proteins and their targeting sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Fluorescence anisotropy: rapid, quantitative assay for protein-DNA and protein-protein interaction.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Interactions of bacteriophage T7 DNA primase/helicase protein with single-stranded and double-stranded DNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

An autosomal locus predisposing to deletions of mitochondrial DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

A Domain of the Gene 4 Helicase/Primase of Bacteriophage T7 Required for the Formation of an Active Hexamer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Application of fluorescence energy transfer and polarization to monitor Escherichia coli cAMP receptor protein and lac promoter interaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

Organization and evolution of bacterial and bacteriophage primase-helicase systems

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2943296

5 July 2018

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.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.151795

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.151795

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.151795

21 January 2018

The N-terminal domain of TWINKLE contributes to single-stranded DNA binding and DNA helicase activities

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.151795

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.151795

21 January 2018

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.151795

21 January 2018

Recessive twinkle mutations cause severe epileptic encephalopathy

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.151795

21 January 2018

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.151795

21 January 2018

Glucose generates sub-plasma membrane ATP microdomains in single islet beta-cells. Potential role for strategically located mitochondria.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.151795

21 January 2018

Population-based study of delays in carotid imaging and surgery and the risk of recurrent stroke

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.151795

21 January 2018

Neurodegenerative Parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.151795

21 January 2018

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

1 reference

https://pubmed.ncbi.nlm.nih.gov/20659899

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase

1 reference

https://pubmed.ncbi.nlm.nih.gov/20659899

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/20659899

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nucleotide-dependent binding of the gene 4 protein of bacteriophage T7 to single-stranded DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/20659899

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Coordination of leading and lagging strand DNA synthesis at the replication fork of bacteriophage T7

1 reference

https://pubmed.ncbi.nlm.nih.gov/20659899

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oligomeric structure of Escherichia coli primary replicative helicase DnaB protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/20659899

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20659899

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oligomeric states of bacteriophage T7 gene 4 primase/helicase

1 reference

https://pubmed.ncbi.nlm.nih.gov/20659899

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1074/JBC.M110.151795

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659899%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659899%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659899%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

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