Johannes N Spelbrink

Summary

Affiliation: University of Tampere
Country: Finland

Publications

  1. doi request reprint Functional organization of mammalian mitochondrial DNA in nucleoids: history, recent developments, and future challenges
    Johannes N Spelbrink
    FinMIT Centre of Excellence, Institute of Medical Technology and Tampere University Hospital, University of Tampere, Tampere 33014 TAY, Finland
    IUBMB Life 62:19-32. 2010
  2. ncbi request reprint Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
    J N Spelbrink
    Institute of Medical Technology and Tampere University Hospital, Tampere, Finland
    Nat Genet 28:223-31. 2001
  3. pmc The mitochondrial transcription termination factor mTERF modulates replication pausing in human mitochondrial DNA
    Anne K Hyvärinen
    Institute of Medical Technology and Tampere University Hospital, FI 33014, University of Tampere, Finland
    Nucleic Acids Res 35:6458-74. 2007
  4. pmc Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling
    Steffi Goffart
    Institute of Medical Technology and Tampere University Hospital, Biokatu 6, 33014, Tampere, Finland
    Hum Mol Genet 18:328-40. 2009
  5. pmc Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes
    Sjoerd Wanrooij
    Institute of Medical Technology and Tampere University Hospital, Tampere, Finland
    Nucleic Acids Res 35:3238-51. 2007
  6. pmc Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA
    Sjoerd Wanrooij
    Institute of Medical Technology and Tampere University Hospital, Tampere, Finland
    Nucleic Acids Res 32:3053-64. 2004
  7. pmc Alterations to the expression level of mitochondrial transcription factor A, TFAM, modify the mode of mitochondrial DNA replication in cultured human cells
    Jaakko L O Pohjoismäki
    Institute of Medical Technology and Tampere University Hospital, FI 33014, University of Tampere, Finland
    Nucleic Acids Res 34:5815-28. 2006
  8. pmc Composition and dynamics of human mitochondrial nucleoids
    Nuria Garrido
    Institute of Medical Technology and Tampere University Hospital, Lenkkeilijankatu 6, 33014 University of Tampere, Tampere, Finland
    Mol Biol Cell 14:1583-96. 2003
  9. ncbi request reprint The mitochondria of cultured mammalian cells: II. Expression and visualization of exogenous proteins in fixed and live cells
    Steffi Goffart
    FinMIT Centre of Excellence, Institute of Medical Technology and Tampere University Hospital, University of Tampere, Finland
    Methods Mol Biol 372:17-32. 2007
  10. pmc A new splice variant of the mouse SIRT3 gene encodes the mitochondrial precursor protein
    Helen M Cooper
    University of Tampere, Institute of Medical Technology and Tampere University Hospital, Tampere, Finland
    PLoS ONE 4:e4986. 2009

Collaborators

Detail Information

Publications14

  1. doi request reprint Functional organization of mammalian mitochondrial DNA in nucleoids: history, recent developments, and future challenges
    Johannes N Spelbrink
    FinMIT Centre of Excellence, Institute of Medical Technology and Tampere University Hospital, University of Tampere, Tampere 33014 TAY, Finland
    IUBMB Life 62:19-32. 2010
    ..I will discuss the implications of the organization of mtDNA in nucleoids in light of DNA replication, repair, gene expression, segregation, and inheritance...
  2. ncbi request reprint Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
    J N Spelbrink
    Institute of Medical Technology and Tampere University Hospital, Tampere, Finland
    Nat Genet 28:223-31. 2001
    ..The mutations cluster in a region of the protein proposed to be involved in subunit interactions. The function of Twinkle is inferred to be critical for lifetime maintenance of human mtDNA integrity...
  3. pmc The mitochondrial transcription termination factor mTERF modulates replication pausing in human mitochondrial DNA
    Anne K Hyvärinen
    Institute of Medical Technology and Tampere University Hospital, FI 33014, University of Tampere, Finland
    Nucleic Acids Res 35:6458-74. 2007
    ....
  4. pmc Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling
    Steffi Goffart
    Institute of Medical Technology and Tampere University Hospital, Biokatu 6, 33014, Tampere, Finland
    Hum Mol Genet 18:328-40. 2009
    ..On the basis of our results we suggest that mtDNA replication pausing or stalling is the common consequence of Twinkle PEO mutations that predisposes to multiple deletion formation...
  5. pmc Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes
    Sjoerd Wanrooij
    Institute of Medical Technology and Tampere University Hospital, Tampere, Finland
    Nucleic Acids Res 35:3238-51. 2007
    ..The observed cause-effect relationship suggests that Twinkle-induced stalling increases lagging-strand initiation events and/or maturation mimicking conventional strand-coupled replication...
  6. pmc Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA
    Sjoerd Wanrooij
    Institute of Medical Technology and Tampere University Hospital, Tampere, Finland
    Nucleic Acids Res 32:3053-64. 2004
    ..Deletion breakpoint analysis showed frequent breakpoints around homopolymeric runs, which could be a signature of replication stalling. Therefore, we propose replication stalling as the principal cause of deletion formation...
  7. pmc Alterations to the expression level of mitochondrial transcription factor A, TFAM, modify the mode of mitochondrial DNA replication in cultured human cells
    Jaakko L O Pohjoismäki
    Institute of Medical Technology and Tampere University Hospital, FI 33014, University of Tampere, Finland
    Nucleic Acids Res 34:5815-28. 2006
    ..We propose that TFAM influences the mode of mtDNA replication via its combined effects on different aspects of mtDNA metabolism...
  8. pmc Composition and dynamics of human mitochondrial nucleoids
    Nuria Garrido
    Institute of Medical Technology and Tampere University Hospital, Lenkkeilijankatu 6, 33014 University of Tampere, Tampere, Finland
    Mol Biol Cell 14:1583-96. 2003
    ..Nucleoids did not colocalize with dynamin-related protein 1, Drp1, a protein of the mitochondrial fission machinery...
  9. ncbi request reprint The mitochondria of cultured mammalian cells: II. Expression and visualization of exogenous proteins in fixed and live cells
    Steffi Goffart
    FinMIT Centre of Excellence, Institute of Medical Technology and Tampere University Hospital, University of Tampere, Finland
    Methods Mol Biol 372:17-32. 2007
    ..This chapter describes some of the methods used in determining mitochondrial protein localization, which can also be used to study dynamics of mitochondria or individual mitochondrial proteins or protein complexes...
  10. pmc A new splice variant of the mouse SIRT3 gene encodes the mitochondrial precursor protein
    Helen M Cooper
    University of Tampere, Institute of Medical Technology and Tampere University Hospital, Tampere, Finland
    PLoS ONE 4:e4986. 2009
    ..Sirtuins are highly conserved between species, yet mouse SIRT3 was reported to be markedly shorter than its human counterpart and to lack the N-terminal mitochondrial targeting signal present in the human protein...
  11. ncbi request reprint No sex please, we're mitochondria: a hypothesis on the somatic unit of inheritance of mammalian mtDNA
    H T Jacobs
    Institute of Medical Technology and Tampere University Hospital, 33101 Tampere, Finland
    Bioessays 22:564-72. 2000
    ..BioEssays 22:564-572, 2000...
  12. ncbi request reprint The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover
    Marina Toompuu
    Institute of Medical Technology and Tampere University Hospital, FIN 33014 University of Tampere, Finland
    J Biol Chem 277:22240-50. 2002
    ..These findings indicate a common molecular process underlying sensorineural deafness caused by mitochondrial tRNA(Ser(UCN)) mutations...
  13. doi request reprint The human SIRT3 protein deacetylase is exclusively mitochondrial
    Helen M Cooper
    Institute of Medical Technology and Tampere University Hospital, Tampere, Finland
    Biochem J 411:279-85. 2008
    ..In addition we suggest, on the basis of the analysis of public genome databases, that the full-length mouse SIRT3 protein is a 37 kDa mitochondrial precursor protein contrary to the previously suggested 29 kDa protein...
  14. ncbi request reprint In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells
    J N Spelbrink
    Institute of Medical Technology and Tampere University Hospital, University of Tampere, 33101 Tampere, Finland
    J Biol Chem 275:24818-28. 2000
    ..These findings demonstrate that POLG exonuclease and polymerase functions are essential for faithful mtDNA maintenance in vivo, and indicate the importance of key residues for these activities...