A
Anu Suomalainen
Researcher at University of Helsinki
Publications - 214
Citations - 19456
Anu Suomalainen is an academic researcher from University of Helsinki. The author has contributed to research in topics: Mitochondrial DNA & Mitochondrial disease. The author has an hindex of 67, co-authored 206 publications receiving 17041 citations. Previous affiliations of Anu Suomalainen include Montreal Neurological Institute and Hospital & University of Eastern Finland.
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Disorders Associated with Multiple Deletions of Mitochondrial DNA
TL;DR: Clinical, genetic and molecular genetic observations indicate heterogeneity of this new disease category, apparently based on a disturbance in the “cross‐talk” between the nuclear and the mitochondrial genomes.
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Mouse models of mtDNA replication diseases.
TL;DR: The strategies that have been undertaken to generate mouse models for mtDNA replication diseases are described, which are essential tools for understanding the consequences of mt DNA replication defects on different tissues and on the metabolism of the whole organism.
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Mitochondrial spongiotic brain disease: astrocytic stress and harmful rapamycin and ketosis effect.
Olesia Ignatenko,Joni Nikkanen,Alexander Kononov,Nicola Zamboni,Gulayse Ince-Dunn,Anu Suomalainen +5 more
TL;DR: Cell type–specific stress responses and effects of rapamycin treatment and ketogenic diet (KD) in mice with spongiotic encephalopathy mimicking human MDS are reported, pointing to a crucial role of diet and metabolism for mitochondrial disease progression.
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Do mitochondrial mutations cause recurrent miscarriage
Milja Kaare,Alexandra Götz,Veli-Matti Ulander,Sarah Ariansen,Risto Kaaja,Anu Suomalainen,Anu Suomalainen,Kristiina Aittomäki,Kristiina Aittomäki +8 more
TL;DR: It is concluded that the sensitive methodology revealed a higher frequency of samples with heteroplasmic variations than expected in women with both RM and controls, however, no apparent increased frequency of heteroplasic mtDNA variations or amounts of aberrant mtDNA was detected in the RM group.
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IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder
Anna Kuukasjärvi,Juan C. Landoni,Jyrki Kaukonen,Mika Juhakoski,Mari Auranen,Tommi Torkkeli,Vidya Velagapudi,Anu Suomalainen +7 more
TL;DR: The authors reported a deleterious heterozygous truncating variant in the inosine monophosphate dehydrogenase gene (IMPDH2) by whole-exome sequencing, co-segregating with a dominantly inherited dystonia-tremor disease.