Publications by authors named "Sanna Marjavaara"

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A mouse model of mitochondrial complex III dysfunction induced by myxothiazol.
Mina Davoudi, Jukka Kallijärvi, Sanna Marjavaara, Heike Kotarsky, Eva Hansson

Biochem Biophys Res Commun· April 2014

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Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation.
Alexandra Götz, Pirjo Isohanni, Brita Liljeström, Jaana Rummukainen, Kari Nikolajev, Sanna Marjavaara

Pediatr Res· July 2012

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FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.
Anu Suomalainen, Jenni M Elo, Kirsi H Pietiläinen, Anna H Hakonen, Ksenia Sevastianova, Sanna K Marjavaara

Lancet Neurol· September 2011

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Effects on mitochondrial transcription of manipulating mTERF protein levels in cultured human HEK293 cells.
Anne K Hyvärinen, Mona K Kumanto, Sanna K Marjavaara, Howard T Jacobs

BMC Mol Biol· September 2010

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Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation.
Heike Kotarsky, Riitta Karikoski, Matthias Mörgelin, Sanna Marjavaara, Petra Bergman

Mitochondrion· August 2010

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Protein synthesis and assembly in mitochondrial disorders.
Xochitl Pérez-Martínez, Soledad Funes, Yolanda Camacho-Villasana, Sanna Marjavaara, Faviola Tavares-Carreón

Curr Top Med Chem· January 2009

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Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
Anna H Hakonen, Steffi Goffart, Sanna Marjavaara, Anders Paetau, Helen Cooper

Hum Mol Genet· December 2008

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Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
Alexandra Götz, Pirjo Isohanni, Helena Pihko, Anders Paetau, Riitta Herva, Sanna Marjavaara

Brain· November 2008

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Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism.
Annina Lyly, Sanna K Marjavaara, Aija Kyttälä, Kristiina Uusi-Rauva, Kaisu Luiro

Hum Mol Genet· May 2008

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Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect.
Yohei Kirino, Takehiro Yasukawa, Sanna K Marjavaara, Howard T Jacobs, Ian J Holt

Hum Mol Genet· March 2006

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