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2006 Lu B, Garrido N, Spelbrink JN, Suzuki CK. (2006) Tid1 isoforms are mitochondrial DnaJ-like chaperones with unique carboxyl termini that determine cytosolic fate. J Biol Chem. 281(19):13150-8. 2005 Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lonnqvist T, Peltonen L. (2005) Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet. Oct 15;14(20):2981-90. Trifunovic A, Hansson A, Wredenberg A, Rovio AT, Dufour E, Khvorostov I, Spelbrink JN, Wibom R, Jacobs HT, Larsson NG (2005) Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production. Proc Natl Acad Sci USA 102(50), 17993-17998. Tyynismaa H, Peltola Mjosund K, Wanrooij S, Lappalainen I, Ylikallio E, Jalanko A, Spelbrink JN, Paetau A, Suomalainen A. (2005): Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice. Proc Natl Acad Sci U S A. Dec 6;102(49):17687-92. 2004 Trifunovic A, Wredenberg A, Falkenberg M, Spelbrink JN, Rovio AT, Bruder CE, Bohlooly-Y M, Gidlöf S, Oldfors A, Wibom R, Jacobs HT, Törnell J, Larsson NG (2004) Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429, 417-423. Tyynismaa H, Sembongi H, Bokori-Brown M, Granycome C, Ashley N, Poulton J, Jalanko A, Spelbrink JN, Holt IJ, Suomalainen A. (2004) Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number. Hum Mol Genet. 13: 3219-27. Wanrooij S, Luoma P, van Goethem G, van Broeckhoven C, Suomalainen A, Spelbrink JN. (2004) Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA. Nucleic Acids Res. 32:3053-64. 2003 Arenas J, Briem E, Dahl H, Hutchison W, Lewis S, Martin MA, Spelbrink H, Tiranti V, Jacobs H, Zeviani M (2003) AThe V368i mutation in Twinkle does not segregate with AdPEO. Ann Neurol. 53, 278. Garrido N, Griparic L, Jokitalo E, Wartiovaara J, van der Bliek AM & Spelbrink JN (2003): Composition and dynamics of human mitochondrial nucleoidsol. Mol. Biol. Cell. Apr;14(4): 1583 - 1596. 2002 Toompuu M, Yasukawa T, Suzuki T, Häkkinen T, Spelbrink JN, Watanabe K, Jacobs HT (2002) The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation and rate of synthesis of tRNASer(UCN) but not its structure or rate of turnover. J. Biol. Chem. 277, 22240-22250. 2001 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. (2001) Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nature Genetics 28, 223-231. Erratum in: Nat Genet 2001 Sep;29(1):100. 2000 Jacobs HT, Lehtinen SK, Spelbrink JN (2000) No sex please, we're mitochondria: a hypothesis on the unit of inheritance of mammalian mtDNA. BioEssays 22, 564-572. Kajander OA, Rovio AT, Majamaa K, Poulton J, Spelbrink JN, Holt IJ, Karhunen PJ, Jacobs HT (2000) Human mtDNA sublimons resemble rearranged mitochondrial genomes found in pathological states. Hum. Mol. Genet. 9, 2821-2835. Lehtinen SK, Hance N, El Meziane A, Juhola MK, Juhola KMI, Karhu R, Spelbrink JN, Holt IJ, Jacobs HT (2000) Genotypic stability, segragation and selection in heteroplasmic human cell-lines containing np 3243 mutant mtDNA. Genetics 154, 363-380. Spelbrink JN, Toivonen JM, Hakkaart GAJ, Kurkela JM, Cooper HM, Lehtinen SK, Lecrenier N, Back JW, Speijer D, Foury F, Jacobs HT (2000) In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells. J. Biol. Chem. 275, 24818-24828 1999 Lehtinen SK, Spelbrink JN, Jacobs HT (1999) Heteroplasmic segregation associated with trisomy-9 in cultured human cells. Somat. Cell Mol. Genet. 25, 263-274 (accepted 2002 but journal volume dated 1999). 1998 Spelbrink JN, van Galen MJM, Zwart R, Bakker HD, Rovio A, Jacobs HT, van den Bogert C (1998) Familial mitochondrial DNA depletion in liver: haplotype analysis of candidate genes. Hum. Genet. 102: 327 - 331. bold = Spelbrink group |