Publications
Recent publications
Singh S, Hämäläinen RH. The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1. Cells 2024 Jan 16;13(2):170. doi: 10.3390/cells13020170.
Singh S, Plotnikova L, Karvonen K, Ryytty S, Hypp.nen J, K.lvi.inen R, Hämäläinen RH. Generation of a human induced pluripotent stem cell line (UEFi004-A)from a patient with Progressive Myoclonic Epilepsytype 1 (EPM1). Stem Cell Res. 2023 Nov 7;73:103248. doi: 10.1016/j.scr.2023.103248.
Ryytty S, Hämäläinen RH. The Mitochondrial m.3243A>G Mutation on the Dish, Lessons from In Vitro Models. Int J Mol Sci. 2023 Aug 30;24(17):13478. doi:10.3390/ijms241713478.
Ryytty S, Modi SR, Naumenko N, Shakirzyanova A, Rahman MO, Vaara M, Suomalainen A, Tavi P, Hämäläinen RH. Varied Responses to a High m.3243A>G Mutation Load and Respiratory Chain Dysfunction in Patient-Derived Cardiomyocytes. Cells. 2022 Aug 19;11(16):2593. doi: 10.3390/cells11162593.
Mikhailov N, Hämäläinen RH. Modulating Mitochondrial DNA Heteroplasmy with Mitochondrially Targeted Endonucleases. Ann Biomed Eng. 2022 Aug 24. doi:10.1007/s10439-022-03051-7.
Sonninen TM, Hämäläinen RH, Koskuvi, M, Saarelainen N, Oksanen M, Shakirzyanova A, Wojciechowski S, PuttonenKA, Naumenko N, Goldsteins G, Laham-Karam N, Lehtonen M, Tavi P, Koistinaho J, Lehtonen Š. Metabolic alterations in Parkinson’s disease astrocytes. Scientific Reports, 2020 10(1):14474. https://doi.org/10.1038/s41598-020-71329-8
Rolova T, Wu Y-C, Koskuvi M, Voutilainen J, Sonninen TM, Kuusisto J, Laakso M, Hämäläinen RH, Koistinaho J, Lehtonen S. Generation of a human induced pluripotent stem cell line (UEFi003-A) carrying heterozygous A673T variant in amyloid precursor protein associated with a reduced risk of Alzheimer`s disease. Stem Cell Research, 2020 14:101968, https://doi.org/10.1016/j.scr.2020.101968
Oksanen M, Hyötyläinen I, Trontti K, Rolova T, Wojciechowski S, Koskuvi M, Viitanen M, Levonen AL, Hovatta I, Roybon L, Kanninen KM, Lehtonen S, Hämäläinen RH, Koistinaho J. NRF2 activation boosts antioxidant defences and ameliorates inflammatory and amyloid properties in human Presenilin-1 mutated Alzheimer’s disease astrocytes. Glia, 2020 Mar;68(3):589-599. doi: 10.1002/glia.23741. https://doi.org/10.1002/glia.23741
Hämäläinen RH, Landoni JC, Ahlqvist KJ, Goffart S, Ryytty S, Rahman MO, Brilhante V, Icay K, Hautaniemi S, Wang L, Laiho M, Suomalainen A. Defects in mtDNA replication challenge nuclear genome stability through nucleotide depletion and provide a unifying mechanism for mouse progerias. Nature Metabolism, 2019 1(10), 958-965. doi: 10.1038/s42255-019-0120-1. https://doi.org/10.1038/s42255-019-0120-1
Oksanen M, Lehtonen Š, Jaronen M, Goldsteins G, Hämäläinen RH, Koistinaho J. Astrocyte alterations in neurodegenerative pathologies and their modelling in human-induced pluripotent stem cell platforms. Cellular and Molecular Life Sciences, 2019 Jul; 76(14):2739-2760. doi: 10.1007/s00018-019-03111-7.
Oksanen M, Hyötyläinen I, Voutilainen J, Puttonen KA, Hämäläinen RH, Graff C, Lehtonen Š, Koistinaho J. Generation of a human induced pluripotent stem cell line (LL008 1.4) from a familial Alzheimer’s disease patient carrying a double KM670/671NL (Swedish) mutation in APP gene. Stem Cell Res. 2018 Aug 1;31:181-185. doi: 10.1016/j.scr.2018.07.024.
Lehtonen Š, Höytyläinen I, Voutilainen J, Sonninen TM, Kuusisto J, Laakso M, Hämäläinen RH, Oksanen M, Koistinaho J. Generation of a human induced pluripotent stem cell line from a patient with a rare A673T variant in amyloid precursor protein gene that reduces the risk for Alzheimer’s disease. Stem Cell Res. 2018 Jul;30:96-99. doi: 10.1016/j.scr.2018.05.014.
Oksanen M, Petersen AJ, Naumenko N, Puttonen K, Lehtonen Š, Gubert Olivé M, Shakirzyanova A, Leskelä S, Sarajärvi T, Viitanen M, Rinne JO, Hiltunen M, Haapasalo A, Giniatullin R, Tavi P, Zhang SC, Kanninen KM, Hämäläinen RH, Koistinaho J. PSEN1 Mutant iPSC-Derived Model Reveals Severe Astrocyte Pathology in Alzheimer’s Disease. Stem Cell Reports. 2017 Dec 12;9(6):1885-1897. doi: 10.1016/j.stemcr.2017.10.016. https://doi.org/10.1016/j.stemcr.2017.10.016