المؤلفون: Rönkkö, Julius, Rodriguez, Yago, Rasila, Tiina, Torregrosa-Munumer, Ruben, Pennonen, Jana, Kvist, Jouni, Kuuluvainen, Emilia, Van Den Bosch, Ludo, Hietakangas, Ville, Bultynck, Geert, Tyynismaa, Henna, Ylikallio, Emil

المساهمون: STEMM - Stem Cells and Metabolism Research Program, Research Programs Unit, Centre of Excellence in Stem Cell Metabolism, Helsinki Institute of Life Science HiLIFE, Institute of Biotechnology, Faculty of Biological and Environmental Sciences, Molecular and Integrative Biosciences Research Programme, Nutrient sensing laboratory, Department of Medical and Clinical Genetics, Henna Tyynismaa / Principal Investigator, Department of Neurosciences, Clinicum, HUS Neurocenter, Neurologian yksikkö

مصطلحات موضوعية: Ca2+signaling, Induced pluripotent stem cells, Inositol 14,5-trisphosphate receptors, Mitochondria, Tca, iPSC, Biomedicine, Biochemistry, cell and molecular biology

وصف الملف: application/pdf

Relation: We thank the MetaStem Metabolomics Unit for the shared resources. FIMM Technology Centre's Sequencing Laboratory (FIMM SeqLab) is acknowledged for Sanger sequencing. The service for running the Stem cell characterization panel was provided by the Biomedicum Functional Genomics Unit at the Helsinki Institute of Life Science and Biocenter Finland at the University of Helsinki. This research was supported by Academy of Finland Centre of Excellence on Stem Cell Metabolism. Academy of Finland Clinical Researcher Funding, The Finnish Medical Foundation, HUS Helsinki University Hospital, Sigrid Juselius Foundation, Paivikki & amp; Sakari Sohlberg Foundation, Paulo Foundation, Emil Aaltonen Foundation, and the Medicine Fund and the Doctoral Programme in Biomedicine of the University of Helsinki. Research in the Bultynck lab was supported by research grants from the Research Council KU Leuven (C14/19/099 and AKUL/19/34 to GB) and from the Research Foundation - Flanders (FWO; G.0818.21N to GB) . GB co-ordinates FWO-WOG CaSign (W001422N) . We thank Rita La Rovere, Kristel Eggermont, Anja Florizoone and Tomas Luyten for excellent technical assistance.; http://hdl.handle.net/10138/565081; 85165465430; 001054904700001

الاتاحة: http://hdl.handle.net/10138/565081

المؤلفون: Palu, Edouard, Järvilehto, Julius, Pennonen, Jana, Huber, Nadine, Herukka, Sanna-Kaisa, Haapasalo, Annakaisa, Isohanni, Pirjo, Tyynismaa, Henna, Auranen, Mari, Ylikallio, Emil

المساهمون: Department of Neurosciences, Kliinisen neurofysiologian yksikkö, HUS Medical Imaging Center, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, Centre of Excellence in Stem Cell Metabolism, Research Programs Unit, HUS Children and Adolescents, Anu Wartiovaara / Principal Investigator, Children's Hospital, Clinicum, Department of Medical and Clinical Genetics, Henna Tyynismaa / Principal Investigator, HUS Neurocenter, Neurologian yksikkö

مصطلحات موضوعية: Biomarker, Cmt1e, Charcot-Marie-Tooth disease, Genetic neuropathy, Pmp22, Neurosciences, Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: Palu , E , Järvilehto , J , Pennonen , J , Huber , N , Herukka , S-K , Haapasalo , A , Isohanni , P , Tyynismaa , H , Auranen , M & Ylikallio , E 2023 , ' Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light ' , Neurogenetics , vol. 24 , no. 4 , pp. 291-301 . https://doi.org/10.1007/s10048-023-00729-5; ORCID: /0000-0002-2493-2422/work/145922098; ORCID: /0000-0001-5178-0703/work/145925157; http://hdl.handle.net/10138/566714; 2d9b1f2d-2c84-4ecf-8c5e-4c40ee2cff8b; 001051809700001

الاتاحة: http://hdl.handle.net/10138/566714

المؤلفون: Sainio, Markus T., Rasila, Tiina, Molchanova, Svetlana M., Järvilehto, Julius, Torregrosa-Muñumer, Rubén, Harjuhaahto, Sandra, Pennonen, Jana, Huber, Nadine, Herukka, Sanna Kaisa, Haapasalo, Annakaisa, Zetterberg, Henrik, Taira, Tomi, Palmio, Johanna, Ylikallio, Emil, Tyynismaa, Henna

المساهمون: Tampere University, Department of Neurosciences and Rehabilitation, Clinical Medicine

مصطلحات موضوعية: 3124 Neurology and psychiatry

وصف الملف: fulltext

Relation: 820105; https://trepo.tuni.fi/handle/10024/139513

الاتاحة: https://trepo.tuni.fi/handle/10024/139513
https://doi.org/10.3389/fcell.2021.820105

المؤلفون: Kenvin, Sebastian, Torregrosa-Munumer, Ruben, Reidelbach, Marco, Pennonen, Jana, Turkia, Jeremi J., Rannila, Erika, Kvist, Jouni, Sainio, Markus T., Huber, Nadine, Herukka, Sanna-Kaisa, Haapasalo, Annakaisa, Auranen, Mari, Trokovic, Ras, Sharma, Vivek, Ylikallio, Emil, Tyynismaa, Henna

المساهمون: STEMM - Stem Cells and Metabolism Research Program, Department of Physics, Centre of Excellence in Stem Cell Metabolism, Medicum, HUS Neurocenter, Clinicum, Neurologian yksikkö, Research Programs Unit, Institute of Biotechnology, Materials Physics, Helsinki Institute of Life Science HiLIFE, Department of Medical and Clinical Genetics, Henna Tyynismaa / Principal Investigator, Neuroscience Center

مصطلحات موضوعية: Biomedicine, metabolism, mutation, dna, mitochondrial, lactates, motor neurons, heteroplasmy

وصف الملف: application/pdf

Relation: Valtion perusrahoitus/hankkeet; The Academy of Finland, University of Helsinki, Magnus Ehrnrooth Foundation, Sigrid Juselius Foundation and Emil Aaltonen Foundation. University of Eastern Finland Doctoral Program in Molecular Medicine (to N.H.).; Kenvin , S , Torregrosa-Munumer , R , Reidelbach , M , Pennonen , J , Turkia , J J , Rannila , E , Kvist , J , Sainio , M T , Huber , N , Herukka , S-K , Haapasalo , A , Auranen , M , Trokovic , R , Sharma , V , Ylikallio , E & Tyynismaa , H 2022 , ' Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism ' , Human Molecular Genetics , vol. 31 , no. 6 , pp. 958-974 . https://doi.org/10.1093/hmg/ddab299; ORCID: /0000-0002-2493-2422/work/114604489; ORCID: /0000-0002-3065-6663/work/114604778; ORCID: /0000-0001-5178-0703/work/114605668; ORCID: /0000-0002-8838-3151/work/114607606; http://hdl.handle.net/10138/345126; 9fcf98be-1ed6-42df-8066-926fa3c760cc; 85127989163; 000790170700001

الاتاحة: http://hdl.handle.net/10138/345126

المؤلفون: Kenvin, Sebastian, Torregrosa-Muñumer, Ruben, Reidelbach, Marco, Pennonen, Jana, Turkia, Jeremi J, Rannila, Erika, Kvist, Jouni, Sainio, Markus T, Huber, Nadine, Herukka, Sanna-Kaisa, Haapasalo, Annakaisa, Auranen, Mari, Trokovic, Ras, Sharma, Vivek, Ylikallio, Emil, Tyynismaa, Henna

المساهمون: Academy of Finland, University of Helsinki, Magnus Ehrnrooth Foundation, Sigrid Jusélius Foundation, Emil Aaltonen Foundation, University of Eastern Finland Doctoral Program in Molecular Medicine

المصدر: Human Molecular Genetics ; volume 31, issue 6, page 958-974 ; ISSN 0964-6906 1460-2083

الاتاحة: http://dx.doi.org/10.1093/hmg/ddab299
https://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddab299/41154296/ddab299.pdf
https://academic.oup.com/hmg/article-pdf/31/6/958/42993509/ddab299.pdf

المؤلفون: Harjuhaahto, Sandra, Rasila, Tiina S., Molchanova, Svetlana M., Woldegebriel, Rosa, Kvist, Jouni, Konovalova, Svetlana, Sainio, Markus T., Pennonen, Jana, Torregrosa-Munumer, Ruben, Ibrahim, Hazem, Otonkoski, Timo, Taira, Tomi, Ylikallio, Emil, Tyynismaa, Henna

المساهمون: Research Programs Unit, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences, Centre of Excellence in Stem Cell Metabolism, Henna Tyynismaa / Principal Investigator, Helsinki One Health (HOH), HUS Children and Adolescents, Timo Pyry Juhani Otonkoski / Principal Investigator, Synaptic Plasticity and Neuronal Synchronization, Veterinary Biosciences, Tomi Taira / Principal Investigator, Neuroscience Center, Clinicum, HUS Neurocenter, Department of Neurosciences, Neurologian yksikkö, Helsinki University Hospital Area, Department of Medical and Clinical Genetics, Staff Services, Helsinki Institute of Life Science HiLIFE, Basal ganglia circuits

مصطلحات موضوعية: CHCHD2, CHCHD10, Induced pluripotent stem cell, Motor neuron differentiation, CMT2, SMAJ, ALS, Mitochondria, CRISPR/Cas9, RNA sequencing, AMYOTROPHIC-LATERAL-SCLEROSIS, PLURIPOTENT STEM-CELLS, ENERGY-METABOLISM, MUTATIONS, POTENTIATION, RECEPTORS, GLUTAMATE, RELEASE, DPP6, Neurosciences, Neurology and psychiatry

وصف الملف: application/pdf

Relation: We thank Riitta Lehtinen for technical assistance. We acknowledge Biomedicum Stem Cell Centre, Biomedicum Functional Genomics Unit, Biomedicum Imaging Unit, and Electron Microscopy Unit of the Institute of Biotechnology, University of Helsinki. HiLIFE Flow cytometry unit is acknowledged for assistance with cell sorting. This work was supported by the Academy of Finland (MetaStem Centre of Excellence to H.T., Clinical Researcher Funding to E.Y.), Sigrid Juselius Foundation, University of Helsinki, Emil Aaltonen Foundation, and Helsinki University Hospital.; Harjuhaahto , S , Rasila , T S , Molchanova , S M , Woldegebriel , R , Kvist , J , Konovalova , S , Sainio , M T , Pennonen , J , Torregrosa-Munumer , R , Ibrahim , H , Otonkoski , T , Taira , T , Ylikallio , E & Tyynismaa , H 2020 , ' ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons ' , Neurobiology of Disease , vol. 141 , 104940 . https://doi.org/10.1016/j.nbd.2020.104940; ORCID: /0000-0002-2493-2422/work/77477859; ORCID: /0000-0002-4061-4563/work/77478110; ORCID: /0000-0001-5178-0703/work/77478762; ORCID: /0000-0002-0580-1486/work/86940740; http://hdl.handle.net/10138/317778; ea62df64-36bc-42f9-a31d-188473b40646; 000542971000016

الاتاحة: http://hdl.handle.net/10138/317778

المؤلفون: Leinonen, Jaakko T., Chen, Yu-Chia, Pennonen, Jana, Lehtonen, Leevi, Junna, Nella, Tukiainen, Taru, Panula, Pertti, Widen, Elisabeth

المساهمون: Genomics of Sex Differences, Institute for Molecular Medicine Finland, University of Helsinki, Department of Anatomy, Medicum, Staff Services, Helsinki In Vivo Animal Imaging Platform (HAIP), Pertti Panula / Principal Investigator, Neuroscience Center, Centre of Excellence in Complex Disease Genetics, Elisabeth Ingrid Maria Widen / Principal Investigator, Genomic Discoveries and Clinical Translation, University Management

مصطلحات موضوعية: GENOME-WIDE ASSOCIATION, PUBERTY, LOCI, VARIANTS, ONSET, AGE, HEIGHT, GROWTH, LIN-28, MEN, Biomedicine

وصف الملف: application/pdf

Relation: Helsingin yliopisto; The authors would like to acknowledge the contribution of the Zebrafish core facility supported by University of Helsinki and Biocenter Finland and Academy of Finland. Special thanks to Henri Koivula and Riikka Pesonen for maintenance of the fish. Anu Suoranta and Pirkko Mattila are warmly acknowledged for their contributions to the RNA-seq experiment which was performed at the FIMM Technology Centre. The Genotype-Tissue Expression (GTEx) Project was supported by the Common Fund of the Office of the Director of the National Institutes of Health, and by NCI, NHGRI, NHLBI, NIDA, NIMH, and NINDS. The data used for the analyses described in this manuscript were obtained from the GTEx Portal and dbGaP accession number phs000424.v6.p1. 393. This research has been conducted using the UK Biobank Resource, and we want to specifically acknowledge Matti Pirinen for the access to the data. Jake Lin is acknowledged for help with the grammar of the manuscript. Samuli Ripatti as the head of the Centre of Excellence in Complex Disease Genetics (CoECDG) is warmly thanked for providing support for this study. This work has been funded by the Academy of Finland grant No. 267561 and JTL was supported by the Finnish Cultural Foundation.; Leinonen , J T , Chen , Y-C , Pennonen , J , Lehtonen , L , Junna , N , Tukiainen , T , Panula , P & Widen , E 2019 , ' LIN28B affects gene expression at the hypothalamic-pituitary axis and serum testosterone levels ' , Scientific Reports , vol. 9 , 18060 . https://doi.org/10.1038/s41598-019-54475-6; ORCID: /0000-0002-5953-5523/work/68616801; ORCID: /0000-0001-7530-6918/work/160779514; http://hdl.handle.net/10138/308504; 0b90632f-11f8-4ae2-93bd-61f432d52f32; 000500562200001

الاتاحة: http://hdl.handle.net/10138/308504

المؤلفون: Pennonen, Jana

المساهمون: Helsingin yliopisto, Bio- ja ympäristötieteellinen tiedekunta, Biotieteiden laitos, University of Helsinki, Faculty of Biological and Environmental Sciences, Department of Biosciences, Helsingfors universitet, Bio- och miljövetenskapliga fakulteten, Biovetenskapliga institutionen

مصطلحات موضوعية: Genetics, Perinnöllisyystiede, Genetik

وصف الملف: application/pdf

Relation: URN:NBN:fi-fe2017112955137; http://hdl.handle.net/10138/228884

الاتاحة: http://hdl.handle.net/10138/228884