Tyynismaa H - Search Results

1

Comparison of solution-based exome capture methods for next generation sequencing.

Sulonen AM, Ellonen P, Almusa H, Lepistö M, Eldfors S, Hannula S, Miettinen T, Tyynismaa H, Salo P, Heckman C, Joensuu H, Raivio T, Suomalainen A, Saarela J. Sulonen AM, et al. Among authors: tyynismaa h. Genome Biol. 2011 Sep 28;12(9):R94. doi: 10.1186/gb-2011-12-9-r94. Genome Biol. 2011. PMID: 21955854 Free PMC article.

2

Small mitochondrial protein NERCLIN regulates cardiolipin homeostasis and mitochondrial ultrastructure.

Konovalova S, Torregrosa-Muñumer R, Manjunath P, Liu X, Baral S, Fatima K, Holopainen M, Kvist J, Rajendran J, Yang Y, Varjosalo M, Käkelä R, Somerharju P, Tyynismaa H. Konovalova S, et al. Among authors: tyynismaa h. Proc Natl Acad Sci U S A. 2023 Jul 25;120(30):e2210599120. doi: 10.1073/pnas.2210599120. Epub 2023 Jul 18. Proc Natl Acad Sci U S A. 2023. PMID: 37463214 Free PMC article.

3

Human IP₃ receptor triple knockout stem cells remain pluripotent despite altered mitochondrial metabolism.

Rönkkö J, Rodriguez Y, Rasila T, Torregrosa-Muñumer R, Pennonen J, Kvist J, Kuuluvainen E, Bosch LVD, Hietakangas V, Bultynck G, Tyynismaa H, Ylikallio E. Rönkkö J, et al. Among authors: tyynismaa h. Cell Calcium. 2023 Sep;114:102782. doi: 10.1016/j.ceca.2023.102782. Epub 2023 Jul 17. Cell Calcium. 2023. PMID: 37481871 Free article.

4

Disease models of mitochondrial aminoacyl-tRNA synthetase defects.

Tyynismaa H. Tyynismaa H. J Inherit Metab Dis. 2023 Sep;46(5):817-823. doi: 10.1002/jimd.12652. Epub 2023 Jul 17. J Inherit Metab Dis. 2023. PMID: 37410890 Review.

5

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. 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

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. 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

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: tyynismaa h. 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.

8

Mouse models of mitochondrial DNA defects and their relevance for human disease.

Tyynismaa H, Suomalainen A. Tyynismaa H, et al. EMBO Rep. 2009 Feb;10(2):137-43. doi: 10.1038/embor.2008.242. Epub 2009 Jan 16. EMBO Rep. 2009. PMID: 19148224 Free PMC article. Review.

9

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.

Tyynismaa H, Ylikallio E, Patel M, Molnar MJ, Haller RG, Suomalainen A. Tyynismaa H, et al. Am J Hum Genet. 2009 Aug;85(2):290-5. doi: 10.1016/j.ajhg.2009.07.009. Epub 2009 Aug 6. Am J Hum Genet. 2009. PMID: 19664747 Free PMC article.

10

Ketogenic diet slows down mitochondrial myopathy progression in mice.

Ahola-Erkkilä S, Carroll CJ, Peltola-Mjösund K, Tulkki V, Mattila I, Seppänen-Laakso T, Oresic M, Tyynismaa H, Suomalainen A. Ahola-Erkkilä S, et al. Among authors: tyynismaa h. Hum Mol Genet. 2010 May 15;19(10):1974-84. doi: 10.1093/hmg/ddq076. Epub 2010 Feb 17. Hum Mol Genet. 2010. PMID: 20167576

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