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

@article{Spelbrink2001HumanMD,
  title={Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria},
  author={Johannes N. Spelbrink and Fang-Yuan Li and Valeria Tiranti and Kaisu Nikali and Qiu-Ping Yuan and Muhammed Tariq and Sjoerd Wanrooij and N. Garrido and Giacomo Comi and Lucia Morandi and Lucio Santoro and Ant{\'o}nio Toscano and G Fabrizi and Hannu Somer and Rebecca Croxen and David Beeson and Joanna Poulton and Anu Suomalainen and Howard T. Jacobs and Massimo Zeviani and Catharina Larsson},
  journal={Nature Genetics},
  year={2001},
  volume={28},
  pages={223-231}
}
The gene products involved in mammalian mitochondrial DNA (mtDNA) maintenance and organization remain largely unknown. We report here a novel mitochondrial protein, Twinkle, with structural similarity to phage T7 gene 4 primase/helicase and other hexameric ring helicases. Twinkle colocalizes with mtDNA in mitochondrial nucleoids. Screening of the gene encoding Twinkle in individuals with autosomal dominant progressive external ophthalmoplegia (adPEO), associated with multiple mtDNA deletions… CONTINUE READING
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References

Publications referenced by this paper.
Showing 1-10 of 54 references

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

F Li
FEBS Lett. 494, • 2001

Mutation of POLG is associated with autosomal dominant progressive external opthalmoplegia with multiple mtDNA deletions

G. Van Goethem, A. Löfgren, +3 authors C. Van Broeckhoven
Nature Genet • 2001

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

Proceedings of the National Academy of Sciences of the United States of America • 2000

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