Spelbrink JN - Search Results

1

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. Nikali K, et al. Among authors: spelbrink jn. Hum Mol Genet. 2005 Oct 15;14(20):2981-90. doi: 10.1093/hmg/ddi328. Epub 2005 Aug 31. Hum Mol Genet. 2005. PMID: 16135556

2

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. Hakonen AH, et al. Among authors: spelbrink jn. Hum Mol Genet. 2008 Dec 1;17(23):3822-35. doi: 10.1093/hmg/ddn280. Epub 2008 Sep 5. Hum Mol Genet. 2008. PMID: 18775955

3

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.

4

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number.

Tyynismaa H, Sembongi H, Bokori-Brown M, Granycome C, Ashley N, Poulton J, Jalanko A, Spelbrink JN, Holt IJ, Suomalainen A. Tyynismaa H, et al. Among authors: spelbrink jn. Hum Mol Genet. 2004 Dec 15;13(24):3219-27. doi: 10.1093/hmg/ddh342. Epub 2004 Oct 27. Hum Mol Genet. 2004. PMID: 15509589

5

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.

6

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.

7

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

8

Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals.

Rovio A, Tiranti V, Bednarz AL, Suomalainen A, Spelbrink JN, Lecrenier N, Melberg A, Zeviani M, Poulton J, Foury F, Jacobs HT. Rovio A, et al. Among authors: spelbrink jn. Eur J Hum Genet. 1999 Feb-Mar;7(2):140-6. doi: 10.1038/sj.ejhg.5200244. Eur J Hum Genet. 1999. PMID: 10196696

9

Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states.

Kajander OA, Rovio AT, Majamaa K, Poulton J, Spelbrink JN, Holt IJ, Karhunen PJ, Jacobs HT. Kajander OA, et al. Among authors: spelbrink jn. Hum Mol Genet. 2000 Nov 22;9(19):2821-35. doi: 10.1093/hmg/9.19.2821. Hum Mol Genet. 2000. PMID: 11092758

10

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.

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