Sanna Marjavaara
University of Helsinki
12 Papers
82 Citations
Sanna Marjavaara is an academic researcher from University of Helsinki. The author has contributed to research in topics: Respiratory chain & Mitochondrial disease. The author has an hindex of 9, co-authored 12 publications. Previous affiliations of Sanna Marjavaara include University of Tampere.
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Papers
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.
Anu Suomalainen,Anu Suomalainen,Jenni M. Elo,Kirsi H. Pietiläinen,Anna H. Hakonen,Ksenia Sevastianova,Mari Päivikki Korpela,Pirjo Isohanni,Pirjo Isohanni,Sanna Marjavaara,Tiina Tyni,Tiina Tyni,Sari Kiuru-Enari,Helena Pihko,Niklas Darin,Katrin Õunap,Leo A. J. Kluijtmans,Anders Paetau,Jana Buzkova,Laurence A. Bindoff,Johanna Annunen-Rasila,Johanna Uusimaa,Aila Rissanen,Hannele Yki-Järvinen,Michio Hirano,Mar Tulinius,Jan A.M. Smeitink,Henna Tyynismaa +27 more
TL;DR: Measurement of FGF-21 concentrations in serum identified primary muscle-manifesting respiratory chain deficiencies in adults and children and might be feasible as a first-line diagnostic test for these disorders to reduce the need for muscle biopsy.
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DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis
Pirjo Isohanni,Tarja Linnankivi,Jana Buzkova,Tuula Lönnqvist,Helena Pihko,Leena Valanne,Pentti J. Tienari,Irina Elovaara,Tuula Pirttilä,Mauri Reunanen,Keijo Koivisto,Sanna Marjavaara,Anu Suomalainen +12 more
TL;DR: All LBSL patients were compound heterozygotes, which suggests that DARS2 mutation homozygosity may be lethal or manifest as a different phenotype, and the authors show that despite identical mutations the clinical picture was quite variable in the patients.
Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect
Yohei Kirino,Takehiro Yasukawa,Takehiro Yasukawa,Sanna Marjavaara,Howard T. Jacobs,Ian J. Holt,Kimitsuna Watanabe,Kimitsuna Watanabe,Tsutomu Suzuki +8 more
TL;DR: Results demonstrate that the acquisition of the wobble modification in another isoacceptor tRNA is critical for suppressing the MELAS mutation, and they highlight the primary role of the UUG decoding deficiency in the molecular pathogenesis of M ELAS syndrome.
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Protein Synthesis and Assembly in Mitochondrial Disorders
Xochitl Pérez-Martínez,Soledad Funes,Yolanda Camacho-Villasana,Sanna Marjavaara,Faviola Tavares-Carreón,Miguel Shingu-Vazquez +5 more
TL;DR: The present review will discuss the most recent advances in the understanding of the mechanisms and factors that govern mammalian mitochondrial translation/protein insertion, as well as known pathologies associated with them.
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Effects on mitochondrial transcription of manipulating mTERF protein levels in cultured human HEK293 cells
TL;DR: mTERF protein levels materially affect the amount of readthrough transcription on the antisense strand of mtDNA, whilst the effects on sense-strand transcripts are complex, and suggest the influence of compensatory mechanisms.