Suomalainen, Anu

Mitochondria: In Sickness and in Health

Nunnari, J., & Suomalainen, A. (2012) · Cell

Mitochondrial Function and PathologyAutophagy in Disease and Therapy

Cited by 3,479

Human mitochondrial DNA deletions associated with mutations in the gene encoding twinkle, a phage T7 gene 4-like protein localized in mitochondria

Spelbrink, J. N., Li, F.-Y., Tiranti, V., Nikali, K., Yuan, Q.-P., Tariq, M., Wanrooij, S., Garrido, N., Comi, G., Morandi, L., et al. (2001) · Nature Genetics

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 882

Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study

Luoma, P., Melberg, A., Rinne, J. O., Kaukonen, J. A., Nupponen, N. N., Chalmers, R. M., Oldfors, A., Rautakorpi, I., Peltonen, L., Majamaa, K., et al. (2004) · The Lancet

Parkinson's Disease Mechanisms and TreatmentsMitochondrial Function and Pathology

Cited by 548

Mitochondrial diseases: the contribution of organelle stress responses to pathology

Suomalainen, A., & Battersby, B. J. (2018) · Nature Reviews Molecular Cell Biology

Mitochondrial Function and PathologyAutophagy in Disease and Therapy

Cited by 505

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance

Hudson, G., Amati-Bonneau, P., Blakely, E. L., Stewart, J. D., He, L., Schaefer, A. M., Griffiths, P. G., Ahlqvist, K., Suomalainen, A., Reynier, P., et al. (2008) · Brain

Mitochondrial Function and PathologyHereditary Neurological Disorders

Cited by 428

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

Suomalainen, A., Elo, J. M., Pietiläinen, K. H., Hakonen, A. H., Sevastianova, K., Korpela, M., Isohanni, P., Marjavaara, S. K., Tyni, T., Kiuru-Enari, S., et al. (2011) · The Lancet Neurology

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 427

Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3

Khan, N. A., Auranen, M., Paetau, I., Pirinen, E., Euro, L., Forsström, S., Pasila, L., Velagapudi, V., Carroll, C. J., Auwerx, J., et al. (2014) · EMBO Molecular Medicine

Sirtuins and Resveratrol in MedicineMitochondrial Function and Pathology

Cited by 385

Impaired Mitochondrial Biogenesis in Adipose Tissue in Acquired Obesity

Heinonen, S., Buzkova, J., Muniandy, M., Kaksonen, R., Ollikainen, M., Ismail, K., Hakkarainen, A., Lundbom, J., Lundbom, N., Vuolteenaho, K., et al. (2015) · Diabetes

Adipose Tissue and MetabolismMitochondrial Function and Pathology

Cited by 362

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

Tyynismaa, H., Mjosund, K. P., Wanrooij, S., Lappalainen, I., Ylikallio, E., Jalanko, A., Spelbrink, J. N., Paetau, A., & Suomalainen, A. (2005) · Proceedings of the National Academy of Sciences

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 342

Mitochondrial myopathy induces a starvation-like response

Tyynismaa, H., Carroll, C. J., Raimundo, N., Ahola-Erkkilä, S., Wenz, T., Ruhanen, H., Guse, K., Hemminki, A., Peltola-Mjøsund, K. E., Tulkki, V., et al. (2010) · Human Molecular Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 300

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

Van Goethem, G., Luoma, P., Rantamäki, M., Al Memar, A., Kaakkola, S., Hackman, P., Krahe, R., Löfgren, A., Martin, J. J., De Jonghe, P., et al. (2004) · Neurology

Mitochondrial Function and PathologyHereditary Neurological Disorders

Cited by 261

Fibroblast growth factor 21 drives dynamics of local and systemic stress responses in mitochondrial myopathy with mtDNA deletions

Forsström, S., Jackson, C. B., Carroll, C. J., Kuronen, M., Pirinen, E., Pradhan, S., Marmyleva, A., Auranen, M., Kleine, I.-M., Khan, N. A., et al. (2019) · Cell Metabolism

Fibroblast Growth Factor ResearchMitochondrial Function and Pathology

Cited by 252

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

Tyynismaa, H., Sembongi, H., Bokori-Brown, M., Granycome, C., Ashley, N., Poulton, J., Jalanko, A., Spelbrink, J. N., Holt, I. J., & Suomalainen, A. (2004) · Human Molecular Genetics

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 250

Decrease of 3243 A–>G mtDNA mutation from blood in MELAS syndrome: a longitudinal study

Rahman, S., Poulton, J., Marchington, D., & Suomalainen, A. (2001) · The American Journal of Human Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 237

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders

Lehtonen, J. M., Forsström, S., Bottani, E., Viscomi, C., Baris, O. R., Isoniemi, H., Höckerstedt, K., Österlund, P., Hurme, M., Jylhävä, J., et al. (2016) · Neurology

Mitochondrial Function and PathologyFibroblast Growth Factor Research

Cited by 220

Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease

Luoma, P. T., Eerola, J., Ahola, S., Hakonen, A. H., Hellström, O., Kivistö, K. T., Tienari, P. J., & Suomalainen, A. (2007) · Neurology

Parkinson's Disease Mechanisms and TreatmentsMitochondrial Function and Pathology

Cited by 154

Overexpression of TFAM or twinkle increases mtDNA copy number and facilitates cardioprotection associated with limited mitochondrial oxidative stress

Ikeda, M., Ide, T., Fujino, T., Arai, S., Saku, K., Kakino, T., Tyynismaa, H., Yamasaki, T., Yamada, K.-I., Kang, D., et al. (2015) · PLOS ONE

Mitochondrial Function and PathologyCardiac Ischemia and Reperfusion

Cited by 152

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

Goffart, S., Cooper, H. M., Tyynismaa, H., Wanrooij, S., Suomalainen, A., & Spelbrink, J. N. (2009) · Human Molecular Genetics

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 138

Human heart mitochondrial DNA is organized in complex catenated networks containing abundant four-way junctions and replication forks

Pohjoismäki, J. L. O., Goffart, S., Tyynismaa, H., Willcox, S., Ide, T., Kang, D., Suomalainen, A., Karhunen, P. J., Griffith, J. D., Holt, I. J., et al. (2009) · Journal of Biological Chemistry

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 122

SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease

Gut, P., Matilainen, S., Meyer, J. G., Pällijeff, P., Richard, J., Carroll, C. J., Euro, L., Jackson, C. B., Isohanni, P., Minassian, B. A., et al. (2020) · Nature Communications

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 83

Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy

Ignatenko, O., Chilov, D., Paetau, I., de Miguel, E., Jackson, C. B., Capin, G., Paetau, A., Terzioglu, M., Euro, L., & Suomalainen, A. (2018) · Nature Communications

Mitochondrial Function and PathologyAutophagy in Disease and Therapy

Cited by 66

Mitochondrial dysfunction compromises ciliary homeostasis in astrocytes

Ignatenko, O., Malinen, S., Rybas, S., Vihinen, H., Nikkanen, J., Kononov, A., Jokitalo, E. S., Ince-Dunn, G., & Suomalainen, A. (2023) · Journal of Cell Biology

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 63

Developmental and pathological changes in the human cardiac muscle mitochondrial DNA organization, replication and copy number

Pohjoismäki, J. L. O., Goffart, S., Taylor, R. W., Turnbull, D. M., Suomalainen, A., Jacobs, H. T., & Karhunen, P. J. (2010) · PLoS ONE

Mitochondrial Function and PathologyGenomic variations and chromosomal abnormalities

Cited by 50

Overexpression of twinkle-helicase protects cardiomyocytes from genotoxic stress caused by reactive oxygen species

Pohjoismäki, J. L. O., Williams, S. L., Boettger, T., Goffart, S., Kim, J., Suomalainen, A., Moraes, C. T., & Braun, T. (2013) · Proceedings of the National Academy of Sciences

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 45