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Publications 1991 2019

2019

A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS)

Esterhuizen, K., Lindeque, J. Z., Mason, S., van der Westhuizen, F. H., Suomalainen, A., Hakonen, A. H., Carroll, C. J., Rodenburg, R. J., de Laat, P. B., Janssen, M. C. H., Smeitink, J. A. M. & Louw, R., Mar 2019, In : Mitochondrion. 45, p. 38-45 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement

Jackson, C. B., Huemer, M., Bolognini, R., Martin, F., Szinnai, G., Donner, B. C., Richter, U., Battersby, B. J., Nuoffer, J-M., Suomalainen, A. & Schaller, A., 15 Feb 2019, In : Human Molecular Genetics. 28, 4, p. 639-649 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Fate of a father's mitochondria

McWilliams, T. G. & Suomalainen, A., 17 Jan 2019, In : Nature. 565, 7739, p. 296-297 2 p.

Research output: Contribution to journalEditorialScientific

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

Sommerville, E. W., Zhou, X-L., Olahova, M., Jenkins, J., Euro, L., Konovalova, S., Hilander, T., Pyle, A., He, L., Habeebu, S., Saunders, C., Kelsey, A., Morris, A. A. M., McFarland, R., Suomalainen, A., Gorman, G. S., Wang, E-D., Thiffault, I., Tyynismaa, H. & Taylor, R. W., 15 Jan 2019, In : Human Molecular Genetics. 28, 2, p. 258-268 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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The metabolic and molecular consequences of mitochondrial dysfunction in mitochondrial disease and acquired obesity

Buzkova, J., Feb 2019, Helsinki: University of Helsinki. 98 p.

Research output: ThesisDoctoral ThesisCollection of Articles

2018

A complex genomic locus drives mtDNA replicase POLG expression to its disease-related nervous system regions

Nikkanen, J., Landoni, J. C., Balboa, D., Haugas, M., Partanen, J., Paetau, A., Isohanni, P., Brilhante, V. & Suomalainen, A., Jan 2018, In : EMBO molecular medicine. 10, 1, p. 13-21 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Defective mitochondrial ATPase due to rare mtDNA m.8969G > A mutation-causing lactic acidosis, intellectual disability, and poor growth

Isohanni, P., Carroll, C. J., Jackson, C. B., Pohjanpelto, M., Lonnqvist, T. & Suomalainen, A., Jan 2018, In : Neurogenetics. 19, 1, p. 49-53 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Genetic Basis of Severe Childhood-Onset Cardiomyopathies

Vasilescu, C., Ojala, T. H., Brilhante, V., Ojanen, S., Hinterding, H. M., Palin, E., Alastalo, T-P., Koskenvuo, J., Hiippala, A., Jokinen, E., Jahnukainen, T., Lohi, J., Pihkala, J., Tyni, T. A., Carroll, C. J. & Suomalainen, A., 6 Nov 2018, In : Journal of the American College of Cardiology. 72, 19, p. 2324-2338 15 p.

Research output: Contribution to journalArticleScientificpeer-review

"Ja huolt’ ei tuntis ollenkaan, jos viikset vain sais kasvamaan"

Wartiovaara, A., 2018, In : Suomen lääkärilehti. 73, 20, p. 1320 1 p.

Research output: Contribution to journalArticleProfessional

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., 4 Jan 2018, In : Nature Communications. 9, 12 p., 70.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers

Buzkova, J., Nikkanen, J., Ahola, S., Hakonen, A. H., Sevastianova, K., Hovinen, T., Yki-Järvinen, H., Pietiläinen, K. H., Lönnqvist, T., Velagapudi, V., Carroll, C. J. & Suomalainen, A., Dec 2018, In : EMBO molecular medicine. 10, 12, 15 p., 9091.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Mitochondrial diseases: the contribution of organelle stress responses to pathology

Suomalainen, A. & Battersby, B. J., 1 Feb 2018, In : Nature Reviews. Molecular Cell Biology. 19, 2, p. 77-92 16 p.

Research output: Contribution to journalArticleScientificpeer-review

Phosphorylation of Parkin at serine 65 is essential for its activation in vivo

McWilliams, T., Barini, E., Pohjolan-Pirhonen, R., Brooks, S. P., Singh, F., Burel, S., Balk, K., Kumar, A., Montava-Garriga, L., Prescott, A. R., Hassoun, S. M., Mouton-Liger, F., Ball, G., Hills, R., Knebel, A., Ulusoy, A., Di Monte, D. A., Tamjar, J., Antico, O., Fears, K. & 11 othersSmith, L., Brambilla, R., Palin, E., Valori, M., Eerola-Rautio, J., Tienari, P., Corti, O., Dunnett, S. B., Ganley, I. G., Suomalainen, A. & Muqit, M. M. K., 7 Nov 2018, In : Open biology. 8, 11, 18 p., 180108.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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PIN-koodi ja onnen avaimet

Wartiovaara, A., 2018, In : Suomen lääkärilehti. 73, 9, p. 608 1 p.

Research output: Contribution to journalArticleProfessional

Open Access
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Quantitative solid-phase assay to measure deoxynucleoside triphosphate pools

Landoni, J. C., Wang, L. & Suomalainen, A., 11 Oct 2018, In : Biology methods & protocols. 3, 1, 6 p., bpy011.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Reply to 'Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G > A variant'

Isohanni, P., Carroll, C. J., Jackson, C. B., Pohjanpelto, M., Lönnqvist, T. & Suomalainen, A., May 2018, In : Neurogenetics. 19, 2, p. 133-134 2 p.

Research output: Contribution to journalLetterScientificpeer-review

Open Access
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Retrospective natural history of thymidine kinase 2 deficiency

Garone, C., Taylor, R. W., Nascimento, A., Poulton, J., Fratter, C., Dominguez-Gonzalez, C., Evans, J. C., Loos, M., Isohanni, P., Suomalainen, A., Ram, D., Hughes, M. I., McFarland, R., Barca, E., Gomez, C. L., Jayawant, S., Thomas, N. D., Manzur, A. Y., Kleinsteuber, K., Martin, M. A. & 23 othersKerr, T., Gorman, G. S., Sommerville, E. W., Chinnery, P. F., Hofer, M., Karch, C., Ralph, J., Camara, Y., Madruga-Garrido, M., Dominguez-Carral, J., Ortez, C., Emperador, S., Montoya, J., Chakrapani, A., Kriger, J. F., Schoenaker, R., Levin, B., Thompson, J. L. P., Long, Y., Rahman, S., Donati, M. A., DiMauro, S. & Hirano, M., Aug 2018, In : Journal of Medical Genetics. 55, 8, p. 515-521 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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RNA modification landscape of the human mitochondrial tRNA(LYs) regulates protein synthesis

Richter, U., Evans, M. E., Clark, W. C., Marttinen, P., Shoubridge, E. A., Suomalainen, A., Wredenberg, A., Wedell, A., Pan, T. & Battersby, B. J., 27 Sep 2018, In : Nature Communications. 9, 11 p., 3966.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Tutkijan motivaatio

Wartiovaara, K. & Wartiovaara, A., 2018, In : Duodecim. 134, 23, p. 2329-2331 3 p.

Research output: Contribution to journalArticleProfessional

2017

Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy

Vasilescu, C., Isohanni, P., Palomäki, M., Pihko, H., Suomalainen, A. & Carroll, C. J., Feb 2017, In : European Journal of Human Genetics. 25, 3, p. 366-370 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Atomistic Molecular Dynamics Simulations of Mitochondrial DNA Polymerase gamma: Novel Mechanisms of Function and Pathogenesis

Euro, L., Haapanen, O., Rog, T., Vattulainen, I., Suomalainen, A. & Sharma, V., 7 Mar 2017, In : Biochemistry. 56, 9, p. 1227-1238 12 p.

Research output: Contribution to journalArticleScientificpeer-review

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Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome

Matilainen, S., Carroll, C. J., Richter, U., Euro, L., Pohjanpelto, M., Paetau, A., Isohanni, P. & Suomalainen, A., 1 Sep 2017, In : Human Molecular Genetics. 26, 17, p. 3352-3361 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Kun valo syttyy, olen olemassa

Wartiovaara, A., 2017, In : Suomen lääkärilehti. 72, 37, p. 2048 1 p.

Research output: Contribution to journalArticleProfessional

Open Access
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Mitokondriaalinen kardiomyopatia

Wartiovaara, A., 2017, Käytännön lastenkardiologiaa. Ojala, T., Happonen, J-M., Jokinen, E. & Pihkala, J. (eds.). 1. p. ed. Helsinki: Kustannus Oy Duodecim, klk01514 (015.014)

Research output: Chapter in Book/Report/Conference proceedingChapterProfessional

mTORC1 Regulates Mitochondrial Integrated Stress Response and Mitochondrial Myopathy Progression

Khan, N., Nikkanen, J., Yatsuga, S., Jackson, C., Wang, L., Pradhan, S., Kivelä, R., Pessia, A., Velagapudi, V. & Suomalainen, A., 1 Aug 2017, In : Cell Metabolism. 26, 2, p. 419–428 10 p.

Research output: Contribution to journalArticleScientificpeer-review

SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish population

Pasanen, P., Palin, E., Pohjolan-Pirhonen, R., Pöyhönen, M., Rinne, J. O., Päivärinta, M., Martikainen, M. H., Kaasinen, V., Hietala, M., Gardberg, M., Saukkonen, A. M., Eerola-Rautio, J., Kaakkola, S., Lyytinen, J., Tienari, P., Paetau, A., Suomalainen, A. & Myllykangas, L., 2017, In : Neurobiology of Aging. 50, 4 p., 168.e5 .

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Täsmäruoka lihaskirurgina

Wartiovaara, A., 2017, In : Suomen lääkärilehti. 72, 48, p. 2856 1 p.

Research output: Contribution to journalArticleProfessional

Open Access
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Tissue-Specific Implications of Mitochondrial DNA Maintenance in Health and Disease

Nikkanen, J., 7 Oct 2017, Helsinki: University of Helsinki. 134 p.

Research output: ThesisDoctoral ThesisCollection of Articles

Open Access
2016

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Haack, T. B., Ignatius, E., Calvo-Garrido, J., Iuso, A., Isohanni, P., Maffezzini, C., Lönnqvist, T., Suomalainen, A., Gorza, M., Kremer, L. S., Graf, E., Hartig, M., Berutti, R., Paucar, M., Svenningsson, P., Stranneheim, H., Brandberg, G., Wedell, A., Kurian, M. A., Hayflick, S. A. & 13 othersVenco, P., Tiranti, V., Strom, T. M., Dichgans, M., Horvath, R., Holinski-Feder, E., Freyer, C., Meitinger, T., Prokisch, H., Senderek, J., Wredenberg, A., Carroll, C. J. & Klopstock, T., 2016, In : American Journal of Human Genetics. 99, 3, p. 735-743 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders

Lehtonen, J. M., Forsstrom, S., Bottani, E., Viscomi, C., Baris, O. R., Isoniemi, H., Hockerstedt, K., Osterlund, P., Hurme, M., Jylhava, J., Leppa, S., Markkula, R., Helio, T., Mombelli, G., Uusimaa, J., Laaksonen, R., Laaksovirta, H., Auranen, M., Zeviani, M., Smeitink, J. & 4 othersWiesner, R. J., Nakada, K., Isohanni, P. & Suomalainen, A., 29 Nov 2016, In : Neurology. 87, 22, p. 2290-2299 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient population

Tatlisumak, T., Putaala, J., Innila, M., Enzinger, C., Metso, T. M., Curtze, S., von Sarnowski, B., Amaral-Silva, A., Jungehulsing, G. J., Tanislav, C., Thijs, V., Rolfs, A., Norrving, B., Fazekas, F., Suomalainen, A. & Kolodny, E. H., Feb 2016, In : Journal of Neurology. 263, 2, p. 257-262 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Generation and Characterization of Induced Pluripotent Stem Cells from Patients with mtDNA Mutations

Hämäläinen, R. H. & Suomalainen, A., 2016, In : Methods in molecular biology. 1353, p. 65-75 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Karsinoidioireyhtymä

Ojala, T., Kokkonen, J. & Wartiovaara, A., 2016, Kardiologia. Airaksinen, J., Aalto-Setälä, K., Hartikainen, J., Huikuri, H., Laine, M., Lommi, J., Raatikainen, P. & Saraste, A. (eds.). 3. uud. p. ed. Helsinki: Duodecim, p. 1095 1 p. kar01696 (064.080)

Research output: Chapter in Book/Report/Conference proceedingChapterProfessional

Mitochondrial diseases

Gorman, G. S., Chinnery, P. F., DiMauro, S., Hirano, M., Koga, Y., McFarland, R., Wartiovaara, A., Thorburn, D. R., Zeviani, M. & Turnbull, D. M., 20 Oct 2016, In : Nature Reviews Disease Primers. 2, p. 1-22 22 p., 16080.

Research output: Contribution to journalArticleScientificpeer-review

Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism

Nikkanen, J., Forsstrom, S., Euro, L., Paetau, I., Kohnz, R. A., Wang, L., Chilov, D., Viinamaki, J., Roivainen, A., Marjamaki, P., Liljenback, H., Ahola, S., Buzkova, J., Terzioglu, M., Khan, N. A., Pirnes-Karhu, S., Paetau, A., Lonnqvist, T., Sajantila, A., Isohanni, P. & 6 othersTyynismaa, H., Nomura, D. K., Battersby, B. J., Velagapudi, V., Carroll, C. J. & Suomalainen, A., 12 Apr 2016, In : Cell Metabolism. 23, 4, p. 635-648 14 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Mitokondriotaudit: Opas sairastuneille, heidän perheilleen sekä lääketieteen opiskelijoille ja ammattilaisille

Koene, S. (ed.), Smeitink, J. (ed.), Wartiovaara, A. (ed.) & Isohanni, P. (ed.), 2016, Toinen laitos, 1. suomenkielinen versio ed. Nijmegen, Alankomaat: Khondrion BV. 141 p.

Research output: Book/ReportBookProfessional

Mitokondriot ja niiden perimä

Wartiovaara, A., 2016, Lääketieteellinen genetiikka. Aittomäki, K., Moilanen, J. & Perola, M. (eds.). 1. p. ed. Helsinki: Duodecim, p. 91-98 8 p. ltg00700 (007.000)

Research output: Chapter in Book/Report/Conference proceedingChapterProfessional

Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathypatients

Ahola, S., Auranen, M., Isohanni, P., Niemisalo, S., Urho, N., Buzkova, J., Velagapudi, V., Lundbom, N., Hakkarainen, A., Muurinen, T., Piirilä, P., Pietilainen, K. H. & Suomalainen, A., Nov 2016, In : EMBO molecular medicine. 8, 11, p. 1234-1247 14 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Recurrent De Novo Dominant Mutations in SLC2SA4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Thompson, K., Majd, H., Dallabona, C., Reinson, K., King, M. S., Alston, C. L., He, L., Lodi, T., Jones, S. A., Fattal-Valevski, A., Fraenkel, N. D., Saada, A., Haham, A., Isohanni, P., Vara, R., Barbosa, I. A., Simpson, M. A., Deshpande, C., Puusepp, S., Bonnen, P. E. & 8 othersRodenburg, R. J., Suomalainen, A., Ounap, K., Elpeleg, O., Ferrero, I., McFarland, R., Kunji, E. R. S. & Taylor, R. W., 6 Oct 2016, In : American Journal of Human Genetics. 99, 4, p. 860-876 17 p.

Research output: Contribution to journalArticleScientificpeer-review

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The Rare Costello Variant HRAS c.173C > T (p.T58I) with Severe Neonatal Hypertrophic Cardiomyopathy

Hiippala, A., Vasilescu, C., Tallila, J., Alastalo, T-P., Paetau, A., Tyni, T., Suomalainen, A., Euro, L. & Ojala, T., Jun 2016, In : American Journal of Medical Genetics. Part A. 170, 6, p. 1433-1438 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Tuhkasta nousee toivo

Wartiovaara, A., 2016, In : Suomen lääkärilehti. 71, 49, p. 3202 1 p.

Research output: Contribution to journalArticleProfessional

Open Access
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USF1 deficiency activates brown adipose tissue and improves cardiometabolic health

Laurila, P-P., Soronen, J., Kooijman, S., Forsstrom, S., Boon, M. R., Surakka, I., Kaiharju, E., Coomans, C. P., Van den Berg, S. A. A., Autio, A., Sarin, A-P., Kettunen, J., Tikkanen, E., Manninen, T., Metso, J., Silvennoinen, R., Merikanto, K., Ruuth, M., Perttila, J., Makela, A. & 27 othersIsomi, A., Tuomainen, A. M., Tikka, A., Ramadan, U. A., Seppala, I., Lehtimaki, T., Eriksson, J., Havulinna, A., Jula, A., Karhunen, P. J., Salomaa, V., Perola, M., Ehnholm, C., Lee-Rueckert, M., Van Eck, M., Roivainen, A., Taskinen, M-R., Palotie, L., Mervaala, E., Jalanko, A., Hohtola, E., Olkkonen, V. M., Ripatti, S., Kovanen, P. T., Rensen, P. C. N., Suomalainen, A. & Jauhiainenit, M., 27 Jan 2016, In : Science translational medicine. 8, 323, 19 p., ARTN 323ra13.

Research output: Contribution to journalArticleScientificpeer-review

2015

Avauspuhe

Wartiovaara, A., 2015, In : Yliopisto : Helsingin yliopiston tiedelehti.

Research output: Contribution to journalArticleGeneral public

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., Moilanen, E., Kaprio, J., Rissanen, A., Suomalainen, A. & Pietilainen, K. H., Sep 2015, In : Diabetes. 64, 9, p. 3135-3145 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

Falk, M. J., Shen, L., Gonzalez, M., Leipzig, J., Lott, M. T., Stassen, A. P. M., Diroma, M. A., Navarro-Gomez, D., Yeske, P., Bai, R., Boles, R. G., Brilhante, V., Ralph, D., DaRe, J. T., Shelton, R., Terry, S. F., Zhang, Z., Copeland, W. C., van Oven, M., Prokisch, H. & 7 othersWallace, D. C., Attimonelli, M., Krotoski, D., Zuchner, S., Gai, X., MSeqDR Consortium & Suomalainen, A., Mar 2015, In : Molecular Genetics and Metabolism. 114, 3, p. 388-396 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Mitochondrial roles in disease: a box full of surprises

Suomalainen, A., Oct 2015, In : EMBO molecular medicine. 7, 10, p. 1245-1247 3 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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mtDNA Mutagenesis Disrupts Pluripotent Stem Cell Function by Altering Redox Signaling

Hamalainen, R. H., Ahlqvist, K. J., Ellonen, P., Lepisto, M., Logan, A., Otonkoski, T., Murphy, M. P. & Suomalainen, A., 16 Jun 2015, In : Cell Reports. 11, 10, p. 1614-1624 11 p.

Research output: Contribution to journalArticleScientificpeer-review

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MtDNA mutagenesis impairs elimination of mitochondria during erythroid maturation leading to enhanced erythrocyte destruction

Ahlqvist, K. J., Leoncini, S., Pecorelli, A., Wortmann, S. B., Ahola, S., Forsström, S., Guerranti, R., De Felice, C., Smeitink, J., Ciccoli, L., Hämäläinen, R. & Suomalainen, A., Mar 2015, In : Nature Communications. 6, 11 p., 6494.

Research output: Contribution to journalArticleScientificpeer-review

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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., Kang, D., Suomalainen, A. & Sunagawa, K., 30 Mar 2015, In : PLoS One. 10, 3, 19 p., 0119687.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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