(Q54558040)

31 May 2018

title

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

1 reference

31 May 2018

autosomal recessive progressive external ophthalmoplegia

main subject

mitochondrial DNA

0 references

1 reference

based on heuristic

inferred from title

progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

1 reference

1

1 reference

31 May 2018

Sofia Ahola-Erkkilä

object named as

Sofia Ahola-Erkkilä

3

0 references

author name string

Ren Sun

2

1 reference

31 May 2018

Henrikki Almusa

4

1 reference

31 May 2018

Rosanna Pöyhönen

5

1 reference

31 May 2018

Mari Korpela

6

1 reference

31 May 2018

Jari Honkaniemi

7

1 reference

31 May 2018

Pirjo Isohanni

8

1 reference

31 May 2018

Anders Paetau

9

1 reference

31 May 2018

Liya Wang

10

1 reference

31 May 2018

Anu Suomalainen

11

1 reference

31 May 2018

publication date

21 September 2011

1 reference

31 May 2018

published in

Human Molecular Genetics

1 reference

31 May 2018

volume

21

1 reference

31 May 2018

issue

1

1 reference

31 May 2018

page(s)

66-75

1 reference

31 May 2018

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

Mitochondrial DNA depletion syndromes--many genes, common mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

Role of adenine nucleotide translocator 1 in mtDNA maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

POLG1 manifestations in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

163rd ENMC International Workshop: nucleoid and nucleotide biology in syndromes of mitochondrial DNA depletion myopathy 12-14 December 2008, Naarden, The Netherlands.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

Structural basis for substrate specificities of cellular deoxyribonucleoside kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

A few amino acid substitutions can convert deoxyribonucleoside kinase specificity from pyrimidines to purines

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

The sugar ring of the nucleoside is required for productive substrate positioning in the active site of human deoxycytidine kinase (dCK): implications for the development of dCK-activated acyclic guanine analogues

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

Kinetic analysis and ligand-induced conformational changes in dimeric and tetrameric forms of human thymidine kinase 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

What causes mitochondrial DNA deletions in human cells?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

EMBOSS: the European Molecular Biology Open Software Suite

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

A mitochondrial protein compendium elucidates complex I disease biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

Mitochondrial dysfunction and oxidative damage in parkin-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

ProMod and Swiss-Model: Internet-based tools for automated comparative protein modelling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR438

21 January 2018

Identifiers

DOI

10.1093/HMG/DDR438

1 reference

31 May 2018

PubMed ID

21937588

1 reference

31 May 2018