(Q36411043)

14 August 2017

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions (English)

1 reference

14 August 2017

0 references

11

Stefania Corti

1 reference

14 August 2017

Michela Ripolone

6

0 references

Caterina Garone

Caterina Garone

2

0 references

Dario Ronchi

Dario Ronchi

1

0 references

Francesca Magri

Francesca Magri

10

0 references

Giacomo P Comi

Giacomo P Comi

16

0 references

Nereo Bresolin

Nereo Bresolin

12

0 references

Salvatore DiMauro

15

Salvatore DiMauro

1 reference

14 August 2017

14

Maurizio Moggio

1 reference

14 August 2017

17

Monica Sciacco

1 reference

14 August 2017

3

Andreina Bordoni

1 reference

14 August 2017

5

Sarah E Calvo

1 reference

14 August 2017

13

Vamsi K Mootha

1 reference

14 August 2017

Purificacion Gutierrez Rios

4

1 reference

14 August 2017

Michela Ranieri

7

1 reference

14 August 2017

Mafalda Rizzuti

8

1 reference

14 August 2017

Luisa Villa

9

1 reference

14 August 2017

language of work or name

English

0 references

publication date

4 October 2012

1 reference

14 August 2017

1 reference

14 August 2017

135

1 reference

14 August 2017

Pt 11

1 reference

14 August 2017

3404-3415

1 reference

describes a project that uses

14 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3501975/fullTextXML

inferred from PubMed Central ID database lookup

1 reference

MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

The human mitochondrial replication fork in health and disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Genetic causes of mitochondrial DNA depletion in humans

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Clinical and molecular features of mitochondrial DNA depletion syndromes.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Accurate whole human genome sequencing using reversible terminator chemistry

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

A mitochondrial protein compendium elucidates complex I disease biology

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Amyotrophic lateral sclerosis with ragged-red fibers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

What causes mitochondrial DNA deletions in human cells?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Inherited mitochondrial diseases of DNA replication

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

SIFT: Predicting amino acid changes that affect protein function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Mitochondrial DNA depletion and dGK gene mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Prediction of deleterious human alleles

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Mitochondrial and submitochondrial localization of human deoxyguanosine kinase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Role of adenine nucleotide translocator 1 in mtDNA maintenance

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Cloning and expression of human deoxyguanosine kinase cDNA

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Selective assays for thymidine kinase 1 and 2 and deoxycytidine kinase and their activities in extracts from human cells and tissues.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Dysfunctional mitochondrial maintenance: what breaks the circle of life?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

In silico prediction of splice-affecting nucleotide variants.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

POLG1 manifestations in childhood

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

New mutations in TK2 gene associated with mitochondrial DNA depletion.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501975

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

21 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS258

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23043144

12 December 2020

inferred from PubMed ID database lookup

Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23043144

12 December 2020

inferred from PubMed ID database lookup

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23043144

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/BRAIN/AWS258

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

23043144

1 reference