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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Journal ArticleDOI
Mitochondria: In Sickness and in Health
TL;DR: This work provides a current view of how mitochondrial functions impinge on health and disease and identifies mitochondrial dysfunction as a key factor in a myriad of diseases, including neurodegenerative and metabolic disorders.
Journal ArticleDOI
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
Johannes N. Spelbrink,Fang Yuan Li,Valeria Tiranti,Kaisu Nikali,Qiu Ping Yuan,Muhammed Tariq,Sjoerd Wanrooij,Nuria Garrido,Giacomo P. Comi,Lucia Morandi,Lucio Santoro,Antonio Toscano,Gian Maria Fabrizi,Hannu Somer,R Croxen,David Beeson,Joanna Poulton,Anu Suomalainen,Howard T. Jacobs,Massimo Zeviani,Catharina Larsson +20 more
TL;DR: A novel mitochondrial protein, Twinkle, with structural similarity to phage T7 gene 4 primase/helicase and other hexameric ring helicases is reported, inferred to be critical for lifetime maintenance of human mtDNA integrity.
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Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance
Jyrki Kaukonen,Jukka K. Juselius,Valeria Tiranti,Aija Kyttälä,Massimo Zeviani,Giacomo P. Comi,Sirkka Keränen,Leena Peltonen,Anu Suomalainen +8 more
TL;DR: The identified two heterozygous missense mutations in the nuclear gene encoding the heart/skeletal muscle isoform of the adenine nucleotide translocator (ANT1) in five families and one sporadic patient indicate that ANT has a role in mtDNA maintenance and that a mitochondrial disease can be caused by a dominant mechanism.
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Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
Petri Luoma,Atle Melberg,Juha O. Rinne,Jyrki Kaukonen,Nina N. Nupponen,Richard M Chalmers,Anders Oldfors,Ilkka Rautakorpi,Leena Peltonen,Kari Majamaa,Hannu Somer,Anu Suomalainen +11 more
TL;DR: Cosegregation of parkinsonism and POLG mutations in seven families suggests that when defective, this gene can underlie mendelian transmission of Parkinsonism.
Journal ArticleDOI
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
Gavin Hudson,Patrizia Amati-Bonneau,Emma L. Blakely,Joanna Stewart,Langping He,Andrew M. Schaefer,Philip G. Griffiths,Kati J. Ahlqvist,Anu Suomalainen,Pascal Reynier,Robert McFarland,D.M. Turnbull,Patrick F. Chinnery,Robert W Taylor +13 more
TL;DR: It is shown that a heterozygous mis-sense mutation in OPA1 leads to multiple mtDNA deletions in skeletal muscle and a mosaic defect of cytochrome c oxidase (COX), demonstrating the importance of OPA 1 in mtDNA maintenance, and implicates OPA2 in diseases associated with secondary defects of mtDNA.