Spelbrink JN - Search Results

1

What causes mitochondrial DNA deletions in human cells?

Krishnan KJ, Reeve AK, Samuels DC, Chinnery PF, Blackwood JK, Taylor RW, Wanrooij S, Spelbrink JN, Lightowlers RN, Turnbull DM. Krishnan KJ, et al. Among authors: spelbrink jn. Nat Genet. 2008 Mar;40(3):275-9. doi: 10.1038/ng.f.94. Nat Genet. 2008. PMID: 18305478 Review.

2

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

Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, Wanrooij S, Garrido N, Comi G, Morandi L, Santoro L, Toscano A, Fabrizi GM, Somer H, Croxen R, Beeson D, Poulton J, Suomalainen A, Jacobs HT, Zeviani M, Larsson C. Spelbrink JN, et al. Nat Genet. 2001 Jul;28(3):223-31. doi: 10.1038/90058. Nat Genet. 2001. PMID: 11431692

3

Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.

Wanrooij S, Luoma P, van Goethem G, van Broeckhoven C, Suomalainen A, Spelbrink JN. Wanrooij S, et al. Among authors: spelbrink jn. Nucleic Acids Res. 2004 Jun 4;32(10):3053-64. doi: 10.1093/nar/gkh634. Print 2004. Nucleic Acids Res. 2004. PMID: 15181170 Free PMC article.

4

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.

Tyynismaa H, Mjosund KP, Wanrooij S, Lappalainen I, Ylikallio E, Jalanko A, Spelbrink JN, Paetau A, Suomalainen A. Tyynismaa H, et al. Among authors: spelbrink jn. Proc Natl Acad Sci U S A. 2005 Dec 6;102(49):17687-92. doi: 10.1073/pnas.0505551102. Epub 2005 Nov 21. Proc Natl Acad Sci U S A. 2005. PMID: 16301523 Free PMC article.

5

Alterations to the expression level of mitochondrial transcription factor A, TFAM, modify the mode of mitochondrial DNA replication in cultured human cells.

Pohjoismäki JL, Wanrooij S, Hyvärinen AK, Goffart S, Holt IJ, Spelbrink JN, Jacobs HT. Pohjoismäki JL, et al. Among authors: spelbrink jn. Nucleic Acids Res. 2006;34(20):5815-28. doi: 10.1093/nar/gkl703. Epub 2006 Oct 24. Nucleic Acids Res. 2006. PMID: 17062618 Free PMC article.

6

Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes.

Wanrooij S, Goffart S, Pohjoismäki JL, Yasukawa T, Spelbrink JN. Wanrooij S, et al. Among authors: spelbrink jn. Nucleic Acids Res. 2007;35(10):3238-51. doi: 10.1093/nar/gkm215. Epub 2007 Apr 22. Nucleic Acids Res. 2007. PMID: 17452351 Free PMC article.

7

The mitochondrial transcription termination factor mTERF modulates replication pausing in human mitochondrial DNA.

Hyvärinen AK, Pohjoismäki JL, Reyes A, Wanrooij S, Yasukawa T, Karhunen PJ, Spelbrink JN, Holt IJ, Jacobs HT. Hyvärinen AK, et al. Among authors: spelbrink jn. Nucleic Acids Res. 2007;35(19):6458-74. doi: 10.1093/nar/gkm676. Epub 2007 Sep 20. Nucleic Acids Res. 2007. PMID: 17884915 Free PMC article.

8

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. Goffart S, et al. Among authors: spelbrink jn. Hum Mol Genet. 2009 Jan 15;18(2):328-40. doi: 10.1093/hmg/ddn359. Epub 2008 Oct 29. Hum Mol Genet. 2009. PMID: 18971204 Free PMC article.

9

Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegia.

Atanassova N, Fusté JM, Wanrooij S, Macao B, Goffart S, Bäckström S, Farge G, Khvorostov I, Larsson NG, Spelbrink JN, Falkenberg M. Atanassova N, et al. Among authors: spelbrink jn. Hum Mol Genet. 2011 Mar 15;20(6):1212-23. doi: 10.1093/hmg/ddq565. Epub 2011 Jan 12. Hum Mol Genet. 2011. PMID: 21228000

10

Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling.

Wessels HJ, Vogel RO, Lightowlers RN, Spelbrink JN, Rodenburg RJ, van den Heuvel LP, van Gool AJ, Gloerich J, Smeitink JA, Nijtmans LG. Wessels HJ, et al. Among authors: spelbrink jn. PLoS One. 2013 Jul 23;8(7):e68340. doi: 10.1371/journal.pone.0068340. Print 2013. PLoS One. 2013. PMID: 23935861 Free PMC article.

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