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Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.

Longley MJ, Humble MM, Sharief FS, Copeland WC.

J Biol Chem. 2010 Sep 24;285(39):29690-702. doi: 10.1074/jbc.M110.151795.


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.


Defects in mitochondrial DNA replication and human disease.

Copeland WC.

Crit Rev Biochem Mol Biol. 2012 Jan-Feb;47(1):64-74. doi: 10.3109/10409238.2011.632763. Review.


Determination of the biochemical properties of full-length human PIF1 ATPase.

Gu Y, Wang J, Li S, Kamiya K, Chen X, Zhou P.

Prion. 2013 Jul-Aug;7(4):341-7. doi: 10.4161/pri.26022.


Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.

Hakonen AH, Goffart S, Marjavaara S, Paetau A, Cooper H, Mattila K, Lampinen M, Sajantila A, Lönnqvist T, Spelbrink JN, Suomalainen A.

Hum Mol Genet. 2008 Dec 1;17(23):3822-35. doi: 10.1093/hmg/ddn280.


Physiological and biochemical defects in carboxyl-terminal mutants of mitochondrial DNA helicase.

Matsushima Y, Farr CL, Fan L, Kaguni LS.

J Biol Chem. 2008 Aug 29;283(35):23964-71. doi: 10.1074/jbc.M803674200.


Human mitochondrial DNA helicase TWINKLE is both an unwinding and annealing helicase.

Sen D, Nandakumar D, Tang GQ, Patel SS.

J Biol Chem. 2012 Apr 27;287(18):14545-56. doi: 10.1074/jbc.M111.309468.


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.


Defects of mitochondrial DNA replication.

Copeland WC.

J Child Neurol. 2014 Sep;29(9):1216-24. doi: 10.1177/0883073814537380. Review.


Promiscuous usage of nucleotides by the DNA helicase of bacteriophage T7: determinants of nucleotide specificity.

Satapathy AK, Crampton DJ, Beauchamp BB, Richardson CC.

J Biol Chem. 2009 May 22;284(21):14286-95. doi: 10.1074/jbc.M900557200.


A mitochondrial implication in a Tunisian patient with Friedreich's ataxia-like.

Maalej M, Mkaouar-Rebai E, Mnif M, Mezghani N, Ben Ayed I, Chamkha I, Abid M, Fakhfakh F.

Pathol Biol (Paris). 2014 Feb;62(1):41-8. doi: 10.1016/j.patbio.2013.07.013.


Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.

Sarzi E, Goffart S, Serre V, Chrétien D, Slama A, Munnich A, Spelbrink JN, Rötig A.

Ann Neurol. 2007 Dec;62(6):579-87.


Structure-function defects of the twinkle amino-terminal region in progressive external ophthalmoplegia.

Holmlund T, Farge G, Pande V, Korhonen J, Nilsson L, Falkenberg M.

Biochim Biophys Acta. 2009 Feb;1792(2):132-9. doi: 10.1016/j.bbadis.2008.11.009.


Insight into the roles of helicase motif Ia by characterizing Fanconi anemia group J protein (FANCJ) patient mutations.

Guo M, Vidhyasagar V, Ding H, Wu Y.

J Biol Chem. 2014 Apr 11;289(15):10551-65. doi: 10.1074/jbc.M113.538892.


Characterization and mutational analysis of the RecQ core of the bloom syndrome protein.

Janscak P, Garcia PL, Hamburger F, Makuta Y, Shiraishi K, Imai Y, Ikeda H, Bickle TA.

J Mol Biol. 2003 Jun 27;330(1):29-42.


Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.

Morino H, Pierce SB, Matsuda Y, Walsh T, Ohsawa R, Newby M, Hiraki-Kamon K, Kuramochi M, Lee MK, Klevit RE, Martin A, Maruyama H, King MC, Kawakami H.

Neurology. 2014 Nov 25;83(22):2054-61. doi: 10.1212/WNL.0000000000001036.

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