Zobrazeno 1 - 10
of 257
pro vyhledávání: '"Anu, Suomalainen"'
Autor:
Juan C. Landoni, Semin Erkul, Tuomas Laalo, Steffi Goffart, Riikka Kivelä, Karlo Skube, Anni I. Nieminen, Sara A. Wickström, James Stewart, Anu Suomalainen
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-11 (2024)
Abstract High mitochondrial DNA (mtDNA) amount has been reported to be beneficial for resistance and recovery of metabolic stress, while increased mtDNA synthesis activity can drive aging signs. The intriguing contrast of these two mtDNA boosting out
Externí odkaz:
https://doaj.org/article/abaa7a8f0e33491a807e68fa7bc5e122
Autor:
Catalina Vasilescu, Mert Colpan, Tiina H. Ojala, Tuula Manninen, Aino Mutka, Kaisa Ylänen, Otto Rahkonen, Tuija Poutanen, Laura Martelius, Reena Kumari, Helena Hinterding, Virginia Brilhante, Simo Ojanen, Pekka Lappalainen, Juha Koskenvuo, Christopher J. Carroll, Velia M. Fowler, Carol C. Gregorio, Anu Suomalainen
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-13 (2024)
Abstract Familial cardiomyopathy in pediatric stages is a poorly understood presentation of heart disease in children that is attributed to pathogenic mutations. Through exome sequencing, we report a homozygous variant in tropomodulin 1 (TMOD1; c.565
Externí odkaz:
https://doaj.org/article/17f82ec28ec14b21ac18fe950a134c51
Autor:
Huihui Luo, Emil K. Gustavsson, Hannah Macpherson, Natalia Dominik, Kristina Zhelcheska, Kylie Montgomery, Claire Anderson, Wai Yan Yau, Stephanie Efthymiou, Chris Turner, Michael DeTure, Dennis W. Dickson, Keith A. Josephs, Tamas Revesz, Tammaryn Lashley, Glenda Halliday, Dominic B. Rowe, Emily McCann, Ian Blair, Andrew J. Lees, Pentti J. Tienari, Anu Suomalainen, Laura Molina-Porcel, Gabor G. Kovacs, Ellen Gelpi, John Hardy, Matti J. Haltia, Arianna Tucci, Zane Jaunmuktane, Mina Ryten, Henry Houlden, Zhongbo Chen
Publikováno v:
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-6 (2024)
Externí odkaz:
https://doaj.org/article/66ce109f71ec44af9981960c060d30a1
Autor:
Nadja Ratia, Edouard Palu, Hanna Lantto, Emil Ylikallio, Ritva Luukkonen, Anu Suomalainen, Mari Auranen, Päivi Piirilä
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionSpinal muscular atrophy, Jokela type (SMAJ) is a rare autosomal dominantly hereditary form of spinal muscular atrophy caused by a point mutation c.197G>T in CHCHD10. CHCHD10 is known to be involved in the regulation of mitochondrial funct
Externí odkaz:
https://doaj.org/article/e7cdf08fadf84726b0c12e38e21565db
Autor:
Sofiia Rybas, Sinem Karaman, Kevin Aguilar, Lina Smeds, Johan Westö, Anna Ribeiro Xavier, Maiken Nedergaard, Albert Quintana, Juan Hidalgo Hidalgo, Petri Ala-Laurila, Kari Alitalo, Gulayse Ince Dunn, Anu Suomalainen
Publikováno v:
IBRO Neuroscience Reports, Vol 15, Iss , Pp S638- (2023)
Externí odkaz:
https://doaj.org/article/816b66c05e544dbd810e016c69f69fda
Autor:
Johanna Uusimaa, Johannes Kettunen, Teppo Varilo, Irma Järvelä, Jukka Kallijärvi, Helena Kääriäinen, Minna Laine, Risto Lapatto, Päivi Myllynen, Harri Niinikoski, Elisa Rahikkala, Anu Suomalainen, Ritva Tikkanen, Henna Tyynismaa, Päivi Vieira, Tomas Zarybnicky, Petra Sipilä, Satu Kuure, Reetta Hinttala
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 10 (2022)
Externí odkaz:
https://doaj.org/article/2a119f42fcfd41c2a9c6dcffb987c478
Autor:
Topi Hovinen, Liisa Korkalo, Riitta Freese, Essi Skaffari, Pirjo Isohanni, Mikko Niemi, Jaakko Nevalainen, Helena Gylling, Nicola Zamboni, Maijaliisa Erkkola, Anu Suomalainen
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 2, Pp 1-12 (2021)
Abstract Vegan diets are gaining popularity, also in families with young children. However, the effects of strict plant‐based diets on metabolism and micronutrient status of children are unknown. We recruited 40 Finnish children with a median age 3
Externí odkaz:
https://doaj.org/article/bc1edf28ff8b41c1bec79929f2032f90
Autor:
Philipp Gut, Sanna Matilainen, Jesse G. Meyer, Pieti Pällijeff, Joy Richard, Christopher J. Carroll, Liliya Euro, Christopher B. Jackson, Pirjo Isohanni, Berge A. Minassian, Reem A. Alkhater, Elsebet Østergaard, Gabriele Civiletto, Alice Parisi, Jonathan Thevenet, Matthew J. Rardin, Wenjuan He, Yuya Nishida, John C. Newman, Xiaojing Liu, Stefan Christen, Sofia Moco, Jason W. Locasale, Birgit Schilling, Anu Suomalainen, Eric Verdin
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
The pathomechanism of succinyl-CoA ligase (SCL) deficiency, a hereditary mitochondrial disease, is not fully understood. Here, the authors show that increased succinyl-CoA levels contribute to SCL pathology by causing global protein hyper-succinylati
Externí odkaz:
https://doaj.org/article/21b100a7321c4480b27d69ad8980a816
Autor:
Zhongbo Chen, Wai Yan Yau, Zane Jaunmuktane, Arianna Tucci, Prasanth Sivakumar, Sarah A. Gagliano Taliun, Chris Turner, Stephanie Efthymiou, Kristina Ibáñez, Roisin Sullivan, Farah Bibi, Alkyoni Athanasiou‐Fragkouli, Thomas Bourinaris, David Zhang, Tamas Revesz, Tammaryn Lashley, Michael DeTure, Dennis W. Dickson, Keith A. Josephs, Ellen Gelpi, Gabor G. Kovacs, Glenda Halliday, Dominic B. Rowe, Ian Blair, Pentti J. Tienari, Anu Suomalainen, Nick C. Fox, Nicholas W. Wood, Andrew J. Lees, Matti J. Haltia, Genomics England Research Consortium, John Hardy, Mina Ryten, Jana Vandrovcova, Henry Houlden
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1716-1725 (2020)
Abstract Neuronal intranuclear inclusion disease (NIID) is a clinically heterogeneous neurodegenerative condition characterized by pathological intranuclear eosinophilic inclusions. A CGG repeat expansion in NOTCH2NLC was recently identified to be as
Externí odkaz:
https://doaj.org/article/bd65c1e21b3a43b093ee1ae9f5b87933
Autor:
Kristin N. Varhaug, Gonzalo S. Nido, Irenaeus deCoo, Pirjo Isohanni, Anu Suomalainen, Charalampos Tzoulis, Per Knappskog, Laurence A. Bindoff
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 8, Pp 1318-1326 (2020)
Abstract Objective The aim of this study was to evaluate if urinary sediment cells offered a robust alternative to muscle biopsy for the diagnosis of single mtDNA deletions. Methods Eleven adult patients with progressive external ophthalmoplegia and
Externí odkaz:
https://doaj.org/article/3e72b7fd710c4ee99a5e5785ae11b6f4