Marjavaara S - Search Results

1

Protein synthesis and assembly in mitochondrial disorders.

Pérez-Martínez X, Funes S, Camacho-Villasana Y, Marjavaara S, Tavares-Carreón F, Shingú-Vázquez M. Pérez-Martínez X, et al. Among authors: marjavaara s. Curr Top Med Chem. 2008;8(15):1335-50. doi: 10.2174/156802608786141124. Curr Top Med Chem. 2008. PMID: 18991722 Review.

2

Effects on mitochondrial transcription of manipulating mTERF protein levels in cultured human HEK293 cells.

Hyvärinen AK, Kumanto MK, Marjavaara SK, Jacobs HT. Hyvärinen AK, et al. Among authors: marjavaara sk. BMC Mol Biol. 2010 Sep 16;11:72. doi: 10.1186/1471-2199-11-72. BMC Mol Biol. 2010. PMID: 20846394 Free PMC article.

3

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.

Hakonen AH, Goffart S, Marjavaara S, Paetau A, Cooper H, Mattila K, Lampinen M, Sajantila A, Lönnqvist T, Spelbrink JN, Suomalainen A. Hakonen AH, et al. Among authors: marjavaara s. Hum Mol Genet. 2008 Dec 1;17(23):3822-35. doi: 10.1093/hmg/ddn280. Epub 2008 Sep 5. Hum Mol Genet. 2008. PMID: 18775955

4

Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect.

Kirino Y, Yasukawa T, Marjavaara SK, Jacobs HT, Holt IJ, Watanabe K, Suzuki T. Kirino Y, et al. Hum Mol Genet. 2006 Mar 15;15(6):897-904. doi: 10.1093/hmg/ddl007. Epub 2006 Jan 30. Hum Mol Genet. 2006. PMID: 16446307

5

Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation.

Götz A, Isohanni P, Liljeström B, Rummukainen J, Nikolajev K, Herrgård E, Marjavaara S, Suomalainen A. Götz A, et al. Among authors: marjavaara s. Pediatr Res. 2012 Jul;72(1):90-4. doi: 10.1038/pr.2012.43. Epub 2012 Mar 27. Pediatr Res. 2012. PMID: 22453297

6

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.

Isohanni P, Linnankivi T, Buzkova J, Lönnqvist T, Pihko H, Valanne L, Tienari PJ, Elovaara I, Pirttilä T, Reunanen M, Koivisto K, Marjavaara S, Suomalainen A. Isohanni P, et al. Among authors: marjavaara s. J Med Genet. 2010 Jan;47(1):66-70. doi: 10.1136/jmg.2009.068221. Epub 2009 Jul 9. J Med Genet. 2010. PMID: 19592391

7

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: marjavaara s. Brain. 2008 Nov;131(Pt 11):2841-50. doi: 10.1093/brain/awn236. Epub 2008 Sep 26. Brain. 2008. PMID: 18819985

8

Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism.

Lyly A, Marjavaara SK, Kyttälä A, Uusi-Rauva K, Luiro K, Kopra O, Martinez LO, Tanhuanpää K, Kalkkinen N, Suomalainen A, Jauhiainen M, Jalanko A. Lyly A, et al. Among authors: marjavaara sk. Hum Mol Genet. 2008 May 15;17(10):1406-17. doi: 10.1093/hmg/ddn028. Epub 2008 Feb 1. Hum Mol Genet. 2008. PMID: 18245779

9

A mouse model of mitochondrial complex III dysfunction induced by myxothiazol.

Davoudi M, Kallijärvi J, Marjavaara S, Kotarsky H, Hansson E, Levéen P, Fellman V. Davoudi M, et al. Among authors: marjavaara s. Biochem Biophys Res Commun. 2014 Apr 18;446(4):1079-84. doi: 10.1016/j.bbrc.2014.03.058. Epub 2014 Mar 21. Biochem Biophys Res Commun. 2014. PMID: 24661880

10

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. Among authors: marjavaara sk. 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.

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