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Page 1
Defects in mtDNA replication challenge nuclear genome stability through nucleotide depletion and provide a unifying mechanism for mouse progerias.
Hämäläinen RH, Landoni JC, Ahlqvist KJ, Goffart S, Ryytty S, Rahman MO, Brilhante V, Icay K, Hautaniemi S, Wang L, Laiho M, Suomalainen A. Hämäläinen RH, et al. Among authors: suomalainen a. Nat Metab. 2019 Oct;1(10):958-965. doi: 10.1038/s42255-019-0120-1. Epub 2019 Oct 7. Nat Metab. 2019. PMID: 32694840
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Hudson G, et al. Among authors: suomalainen a. Brain. 2008 Feb;131(Pt 2):329-37. doi: 10.1093/brain/awm272. Epub 2007 Dec 7. Brain. 2008. PMID: 18065439
Human heart mitochondrial DNA is organized in complex catenated networks containing abundant four-way junctions and replication forks.
Pohjoismäki JL, Goffart S, Tyynismaa H, Willcox S, Ide T, Kang D, Suomalainen A, Karhunen PJ, Griffith JD, Holt IJ, Jacobs HT. Pohjoismäki JL, et al. Among authors: suomalainen a. J Biol Chem. 2009 Aug 7;284(32):21446-57. doi: 10.1074/jbc.M109.016600. Epub 2009 Jun 12. J Biol Chem. 2009. PMID: 19525233 Free PMC article.
Mouse models of mtDNA replication diseases.
Tyynismaa H, Suomalainen A. Tyynismaa H, et al. Among authors: suomalainen a. Methods. 2010 Aug;51(4):405-10. doi: 10.1016/j.ymeth.2010.03.009. Epub 2010 Apr 10. Methods. 2010. PMID: 20385238 Review.
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
Götz A, Tyynismaa H, Euro L, Ellonen P, Hyötyläinen T, Ojala T, Hämäläinen RH, Tommiska J, Raivio T, Oresic M, Karikoski R, Tammela O, Simola KO, Paetau A, Tyni T, Suomalainen A. Götz A, et al. Among authors: suomalainen a. Am J Hum Genet. 2011 May 13;88(5):635-42. doi: 10.1016/j.ajhg.2011.04.006. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549344 Free PMC article.
257 results