(Q28204177)

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

scientific article (publication date: July 2001)

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

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mitochondrial DNA

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Twinkle mtDNA helicase

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GOA release 2020-03-11

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Sjoerd Wanrooij

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S Wanrooij

7

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Valeria Tiranti

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V Tiranti

3

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L Santoro

11

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object named as

G Comi

9

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Johannes N Spelbrink

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ORCID Public Data File 2021

author name string

J N Spelbrink

1

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F Y Li

2

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K Nikali

4

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Q P Yuan

5

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M Tariq

6

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N Garrido

8

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L Morandi

10

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A Toscano

12

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G M Fabrizi

13

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H Somer

14

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R Croxen

15

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D Beeson

16

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J Poulton

17

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A Suomalainen

18

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H T Jacobs

19

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M Zeviani

20

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C Larsson

21

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language of work or name

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publication date

July 2001

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Nature Genetics

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28

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3

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223-31

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

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Replication of animal mitochondrial DNA.

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Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA.

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Mitochondrial DNA polymerases from yeast to man: a new family of polymerases

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Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database

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

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

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Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism

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Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24

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Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia

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Multiple mtDNA deletions: clinical and molecular correlations

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Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy

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An autosomal locus predisposing to deletions of mitochondrial DNA

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A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia

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Role of adenine nucleotide translocator 1 in mtDNA maintenance

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Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

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The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression

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Characterization and crystallization of the helicase domain of bacteriophage T7 gene 4 protein

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Human mitochondria and mitochondrial genome function as a single dynamic cellular unit

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In situ localization of mitochondrial DNA replication in intact mammalian cells

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Organization of multiple nucleoids and DNA molecules in mitochondria of a human cell

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In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells

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Biochemical analysis of mutant T7 primase/helicase proteins defective in DNA binding, nucleotide hydrolysis, and the coupling of hydrolysis with DNA unwinding

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DNA helicase from mammalian mitochondria

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Characterization of a novel human putative mitochondrial transporter homologous to the yeast mitochondrial RNA splicing proteins 3 and 4.

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

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Crystal structure of T7 gene 4 ring helicase indicates a mechanism for sequential hydrolysis of nucleotides

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Cooperative interactions of nucleotide ligands are linked to oligomerization and DNA binding in bacteriophage T7 gene 4 helicases.

1 reference

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Organization and evolution of bacterial and bacteriophage primase-helicase systems

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The division apparatus of plastids and mitochondria

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In organello formaldehyde crosslinking of proteins to mtDNA: identification of bifunctional proteins

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Mitochondrial DNA molecules and virtual number of mitochondria per cell in mammalian cells

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Crystal structure of a bacteriophage T7 DNA replication complex at 2.2 A resolution

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Crystal structure of the helicase domain from the replicative helicase-primase of bacteriophage T7

1 reference

https://api.crossref.org/works/10.1038%2F90058

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Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states

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https://api.crossref.org/works/10.1038%2F90058

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

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Positional cloning of the Werner's syndrome gene

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Extrachromosomal rDNA circles--a cause of aging in yeast

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Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease

1 reference

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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based on heuristic

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