User profiles for "author:Henna Tyynismaa"

Henna Tyynismaa

University of Helsinki
Verified email at helsinki.fi
Cited by 6376

Mitochondrial aminoacyl-tRNA synthetases in human disease

S Konovalova, H Tyynismaa - Molecular Genetics and Metabolism, 2013 - Elsevier
Mitochondrial aminoacyl-tRNA synthetases (mtARSs) are essential in the process of
transferring genetic information from mitochondrial DNA to the complexes of the oxidative …

Mouse models of mitochondrial DNA defects and their relevance for human disease

H Tyynismaa, A Suomalainen - EMBO reports, 2009 - embopress.org
Qualitative and quantitative changes in mitochondrial DNA (mtDNA) have been shown to be
common causes of inherited neurodegenerative and muscular diseases, and have also …

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

A Suomalainen, JM Elo, KH Pietiläinen… - The Lancet …, 2011 - thelancet.com
Background Muscle biopsy is the gold standard for diagnosis of mitochondrial disorders
because of the lack of sensitive biomarkers in serum. Fibroblast growth factor 21 (FGF-21) is …

The Finnish genetic heritage in 2022–from diagnosis to translational research

J Uusimaa, J Kettunen, T Varilo… - Disease Models & …, 2022 - journals.biologists.com
Isolated populations have been valuable for the discovery of rare monogenic diseases and
their causative genetic variants. Finnish disease heritage (FDH) is an example of a group of …

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

H Tyynismaa, KP Mjosund… - Proceedings of the …, 2005 - National Acad Sciences
Defects of mitochondrial DNA (mtDNA) maintenance have recently been associated with
inherited neurodegenerative and muscle diseases and the aging process. Twinkle is a …

Mitochondrial myopathy induces a starvation-like response

H Tyynismaa, CJ Carroll, N Raimundo… - Human molecular …, 2010 - academic.oup.com
Mitochondrial respiratory chain (RC) deficiency is among the most common causes of
inherited metabolic disease, but its physiological consequences are poorly characterized …

[HTML][HTML] Comparison of solution-based exome capture methods for next generation sequencing

AM Sulonen, P Ellonen, H Almusa, M Lepistö, S Eldfors… - Genome biology, 2011 - Springer
Background Techniques enabling targeted re-sequencing of the protein coding sequences
of the human genome on next generation sequencing instruments are of great interest. We …

[PDF][PDF] Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

A Götz, H Tyynismaa, L Euro, P Ellonen… - The American Journal of …, 2011 - cell.com
Infantile cardiomyopathies are devastating fatal disorders of the neonatal period or the first
year of life. Mitochondrial dysfunction is a common cause of this group of diseases, but the …

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number

H Tyynismaa, H Sembongi… - Human molecular …, 2004 - academic.oup.com
Mechanisms of mitochondrial DNA (mtDNA) maintenance have recently gained wide
interest owing to their role in inherited diseases as well as in aging. Twinkle is a new …

[PDF][PDF] Somatic progenitor cell vulnerability to mitochondrial DNA mutagenesis underlies progeroid phenotypes in Polg mutator mice

KJ Ahlqvist, RH Hämäläinen, S Yatsuga, M Uutela… - Cell metabolism, 2012 - cell.com
Somatic stem cell (SSC) dysfunction is typical for different progeroid phenotypes in mice with
genomic DNA repair defects. MtDNA mutagenesis in mice with defective Polg exonuclease …