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Results: 1 to 20 of 82

1.

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. Epub 2010 Jul 20.

PMID:
20659899
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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.

PMID:
22952820
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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. Epub 2008 Sep 5.

PMID:
18775955
[PubMed - indexed for MEDLINE]
Free Article
4.

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.

PMID:
22176657
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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. Epub 2008 Jun 30.

PMID:
18593709
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

The nucleotide binding site of the helicase/primase of bacteriophage T7. Interaction of mutant and wild-type proteins.

Notarnicola SM, Richardson CC.

J Biol Chem. 1993 Dec 25;268(36):27198-207.

PMID:
8262961
[PubMed - indexed for MEDLINE]
Free Article
7.

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. Epub 2013 Aug 7.

PMID:
23924759
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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.

PMID:
23393161
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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. Epub 2012 Mar 1.

PMID:
22383523
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Mechanism of DnaB helicase of Escherichia coli: structural domains involved in ATP hydrolysis, DNA binding, and oligomerization.

Biswas EE, Biswas SB.

Biochemistry. 1999 Aug 24;38(34):10919-28.

PMID:
10460147
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
17722119
[PubMed - indexed for MEDLINE]
12.
13.

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. Epub 2008 Nov 24.

PMID:
19084593
[PubMed - indexed for MEDLINE]
Free Article
14.

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.

Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lönnqvist T, Peltonen L.

Hum Mol Genet. 2005 Oct 15;14(20):2981-90. Epub 2005 Aug 31.

PMID:
16135556
[PubMed - indexed for MEDLINE]
Free Article
15.

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.

PMID:
12818200
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
18971204
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.

Elpeleg O, Mandel H, Saada A.

J Mol Med (Berl). 2002 Jul;80(7):389-96. Epub 2002 May 24.

PMID:
12110944
[PubMed - indexed for MEDLINE]
18.

A dominant negative allele of the Escherichia coli uvrD gene encoding DNA helicase II. A biochemical and genetic characterization.

George JW, Brosh RM Jr, Matson SW.

J Mol Biol. 1994 Jan 14;235(2):424-35.

PMID:
8289272
[PubMed - indexed for MEDLINE]
19.

TWINKLE Has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein.

Korhonen JA, Gaspari M, Falkenberg M.

J Biol Chem. 2003 Dec 5;278(49):48627-32. Epub 2003 Sep 15.

PMID:
12975372
[PubMed - indexed for MEDLINE]
Free Article
20.

Hmi1p from Saccharomyces cerevisiae mitochondria is a structure-specific DNA helicase.

Kuusk S, Sedman T, Jõers P, Sedman J.

J Biol Chem. 2005 Jul 1;280(26):24322-9. Epub 2005 Apr 25.

PMID:
15855170
[PubMed - indexed for MEDLINE]
Free Article

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