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Structural rearrangements in the mitochondrial genome of Drosophila melanogaster induced by elevated levels of the replicative DNA helicase.

Ciesielski GL, Nadalutti CA, Oliveira MT, Jacobs HT, Griffith JD, Kaguni LS.

Nucleic Acids Res. 2018 Apr 6;46(6):3034-3046. doi: 10.1093/nar/gky094.


Drosophila nuclear factor DREF regulates the expression of the mitochondrial DNA helicase and mitochondrial transcription factor B2 but not the mitochondrial translation factor B1.

Fernández-Moreno MA, Hernández R, Adán C, Roberti M, Bruni F, Polosa PL, Cantatore P, Matsushima Y, Kaguni LS, Garesse R.

Biochim Biophys Acta. 2013 Oct;1829(10):1136-46. doi: 10.1016/j.bbagrm.2013.07.006. Epub 2013 Jul 31.


Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects.

Sanchez-Martinez A, Calleja M, Peralta S, Matsushima Y, Hernandez-Sierra R, Whitworth AJ, Kaguni LS, Garesse R.

PLoS One. 2012;7(8):e43954. doi: 10.1371/journal.pone.0043954. Epub 2012 Aug 28.


TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication.

Milenkovic D, Matic S, Kühl I, Ruzzenente B, Freyer C, Jemt E, Park CB, Falkenberg M, Larsson NG.

Hum Mol Genet. 2013 May 15;22(10):1983-93. doi: 10.1093/hmg/ddt051. Epub 2013 Feb 7.


Drosophila mitochondrial transcription factor B2 regulates mitochondrial DNA copy number and transcription in schneider cells.

Matsushima Y, Garesse R, Kaguni LS.

J Biol Chem. 2004 Jun 25;279(26):26900-5. Epub 2004 Apr 1.


Replication stalling by catalytically impaired Twinkle induces mitochondrial DNA rearrangements in cultured cells.

Pohjoismäki JL, Goffart S, Spelbrink JN.

Mitochondrion. 2011 Jul;11(4):630-4. doi: 10.1016/j.mito.2011.04.002. Epub 2011 Apr 20.


The N-terminal domain of the Drosophila mitochondrial replicative DNA helicase contains an iron-sulfur cluster and binds DNA.

Stiban J, Farnum GA, Hovde SL, Kaguni LS.

J Biol Chem. 2014 Aug 29;289(35):24032-42. doi: 10.1074/jbc.M114.587774. Epub 2014 Jul 14.


RAD51C/XRCC3 Facilitates Mitochondrial DNA Replication and Maintains Integrity of the Mitochondrial Genome.

Mishra A, Saxena S, Kaushal A, Nagaraju G.

Mol Cell Biol. 2018 Jan 16;38(3). pii: e00489-17. doi: 10.1128/MCB.00489-17. Print 2018 Feb 1.


Mitochondrial transcription terminator family members mTTF and mTerf5 have opposing roles in coordination of mtDNA synthesis.

Jõers P, Lewis SC, Fukuoh A, Parhiala M, Ellilä S, Holt IJ, Jacobs HT.

PLoS Genet. 2013;9(9):e1003800. doi: 10.1371/journal.pgen.1003800. Epub 2013 Sep 19.


Damaged mitochondrial DNA replication system and the development of diabetic retinopathy.

Tewari S, Santos JM, Kowluru RA.

Antioxid Redox Signal. 2012 Aug 1;17(3):492-504. doi: 10.1089/ars.2011.4333. Epub 2012 Feb 17.


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

Goffart S, Cooper HM, Tyynismaa H, Wanrooij S, Suomalainen A, Spelbrink JN.

Hum Mol Genet. 2009 Jan 15;18(2):328-40. doi: 10.1093/hmg/ddn359. Epub 2008 Oct 29.


Mitochondrial transcription termination factor 1 directs polar replication fork pausing.

Shi Y, Posse V, Zhu X, Hyvärinen AK, Jacobs HT, Falkenberg M, Gustafsson CM.

Nucleic Acids Res. 2016 Jul 8;44(12):5732-42. doi: 10.1093/nar/gkw302. Epub 2016 Apr 25.


Animal Mitochondrial DNA Replication.

Ciesielski GL, Oliveira MT, Kaguni LS.

Enzymes. 2016;39:255-92. doi: 10.1016/bs.enz.2016.03.006. Epub 2016 May 9. Review.


Overexpression of TFAM or twinkle increases mtDNA copy number and facilitates cardioprotection associated with limited mitochondrial oxidative stress.

Ikeda M, Ide T, Fujino T, Arai S, Saku K, Kakino T, Tyynismaa H, Yamasaki T, Yamada K, Kang D, Suomalainen A, Sunagawa K.

PLoS One. 2015 Mar 30;10(3):e0119687. doi: 10.1371/journal.pone.0119687. eCollection 2015.


Mitochondrial genome linearization is a causative factor for cardiomyopathy in mice and Drosophila.

Chen Y, Sparks M, Bhandari P, Matkovich SJ, Dorn GW 2nd.

Antioxid Redox Signal. 2014 Nov 10;21(14):1949-59. doi: 10.1089/ars.2013.5432. Epub 2013 Oct 22.


DNA sequences proximal to human mitochondrial DNA deletion breakpoints prevalent in human disease form G-quadruplexes, a class of DNA structures inefficiently unwound by the mitochondrial replicative Twinkle helicase.

Bharti SK, Sommers JA, Zhou J, Kaplan DL, Spelbrink JN, Mergny JL, Brosh RM Jr.

J Biol Chem. 2014 Oct 24;289(43):29975-93. doi: 10.1074/jbc.M114.567073. Epub 2014 Sep 5.


In vivo occupancy of mitochondrial single-stranded DNA binding protein supports the strand displacement mode of DNA replication.

Miralles Fusté J, Shi Y, Wanrooij S, Zhu X, Jemt E, Persson Ö, Sabouri N, Gustafsson CM, Falkenberg M.

PLoS Genet. 2014 Dec 4;10(12):e1004832. doi: 10.1371/journal.pgen.1004832. eCollection 2014 Dec.


Purification and Comparative Assay of the Human Mitochondrial Replicative DNA Helicase.

Rosado-Ruiz FA, So M, Kaguni LS.

Methods Mol Biol. 2016;1351:185-98. doi: 10.1007/978-1-4939-3040-1_14.

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