(Q33570991)

28 July 2017

title

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype (English)

1 reference

28 July 2017

Reetta Hinttala

2

0 references

author name string

Tuomas Komulainen

1

1 reference

28 July 2017

Mikko Kärppä

3

1 reference

28 July 2017

Leila Pajunen

4

1 reference

28 July 2017

Saara Finnilä

5

1 reference

28 July 2017

Hannu Tuominen

6

1 reference

28 July 2017

Heikki Rantala

7

1 reference

28 July 2017

Ilmo Hassinen

8

1 reference

28 July 2017

Kari Majamaa

9

1 reference

28 July 2017

Johanna Uusimaa

10

1 reference

28 July 2017

publication date

3 May 2010

1 reference

28 July 2017

1 reference

28 July 2017

volume

10

1 reference

28 July 2017

page(s)

29

1 reference

The Jpred 3 secondary structure prediction server

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

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14 July 2018

1 reference

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The EM structure of human DNA polymerase gamma reveals a localized contact between the catalytic and accessory subunits

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

Mitochondrial DNA polymerase-gamma and human disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

POLG1 mutations associated with progressive encephalopathy in childhood

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

14 July 2018

Mitochondrial disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

DNA polymerase gamma in mitochondrial DNA replication and repair.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

Consequences of mutations in human DNA polymerase gamma.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

Mutations in the spacer region of Drosophila mitochondrial DNA polymerase affect DNA binding, processivity, and the balance between Pol and Exo function

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

DNA polymerase gamma, the mitochondrial replicase

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

Locked nucleic acid (LNA): fine-tuning the recognition of DNA and RNA.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

MOLMOL: a program for display and analysis of macromolecular structures

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

Structure of DNA polymerase I Klenow fragment bound to duplex DNA

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

Comparative protein modelling by satisfaction of spatial restraints

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

14 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-29

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-29

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-29

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-29

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-29

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-29

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-29

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/10.1186%2F1471-2377-10-29

Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-29

Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-29

Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873323

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20438629

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20438629

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Side chains that influence fidelity at the polymerase active site of Escherichia coli DNA polymerase I (Klenow fragment)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20438629

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2377-10-29

1 reference

Dimensions Publication ID

28 July 2017

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2377-10-29

9 September 2019

1 reference

28 July 2017

1 reference