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SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease.
Gut P, Matilainen S, Meyer JG, Pällijeff P, Richard J, Carroll CJ, Euro L, Jackson CB, Isohanni P, Minassian BA, Alkhater RA, Østergaard E, Civiletto G, Parisi A, Thevenet J, Rardin MJ, He W, Nishida Y, Newman JC, Liu X, Christen S, Moco S, Locasale JW, Schilling B, Suomalainen A, Verdin E. Gut P, et al. Among authors: suomalainen a. Nat Commun. 2020 Nov 23;11(1):5927. doi: 10.1038/s41467-020-19743-4. Nat Commun. 2020. PMID: 33230181 Free PMC article.
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
Götz A, Isohanni P, Pihko H, Paetau A, Herva R, Saarenpää-Heikkilä O, Valanne L, Marjavaara S, Suomalainen A. Götz A, et al. Among authors: suomalainen a. Brain. 2008 Nov;131(Pt 11):2841-50. doi: 10.1093/brain/awn236. Epub 2008 Sep 26. Brain. 2008. PMID: 18819985
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: suomalainen a. 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
Mitochondrial myopathy induces a starvation-like response.
Tyynismaa H, Carroll CJ, Raimundo N, Ahola-Erkkilä S, Wenz T, Ruhanen H, Guse K, Hemminki A, Peltola-Mjøsund KE, Tulkki V, Oresic M, Moraes CT, Pietiläinen K, Hovatta I, Suomalainen A. Tyynismaa H, et al. Among authors: suomalainen a. Hum Mol Genet. 2010 Oct 15;19(20):3948-58. doi: 10.1093/hmg/ddq310. Epub 2010 Jul 23. Hum Mol Genet. 2010. PMID: 20656789
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.
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.
Suomalainen A, Elo JM, Pietiläinen KH, Hakonen AH, Sevastianova K, Korpela M, Isohanni P, Marjavaara SK, Tyni T, Kiuru-Enari S, Pihko H, Darin N, Õunap K, Kluijtmans LA, Paetau A, Buzkova J, Bindoff LA, Annunen-Rasila J, Uusimaa J, Rissanen A, Yki-Järvinen H, Hirano M, Tulinius M, Smeitink J, Tyynismaa H. Suomalainen A, et al. Lancet Neurol. 2011 Sep;10(9):806-18. doi: 10.1016/S1474-4422(11)70155-7. Epub 2011 Aug 3. Lancet Neurol. 2011. PMID: 21820356 Free PMC article.
257 results