Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Tuula Manninen"'
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:
Jason W. Miklas, Elisa Clark, Shiri Levy, Damien Detraux, Andrea Leonard, Kevin Beussman, Megan R. Showalter, Alec T. Smith, Peter Hofsteen, Xiulan Yang, Jesse Macadangdang, Tuula Manninen, Daniel Raftery, Anup Madan, Anu Suomalainen, Deok-Ho Kim, Charles E. Murry, Oliver Fiehn, Nathan J. Sniadecki, Yuliang Wang, Hannele Ruohola-Baker
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-21 (2019)
Mutations in the gene HADHA result in mitochondrial tri-functional protein (MTP) deficiency and can result in sudden infant death syndrome for which there is no treatment. Here the authors show that the MTP deficient pathology in human cardiomyocytes
Externí odkaz:
https://doaj.org/article/eb9585b9475b4ec39e5021a1cc4c96fb
Autor:
Jason W. Miklas, Elisa Clark, Shiri Levy, Damien Detraux, Andrea Leonard, Kevin Beussman, Megan R. Showalter, Alec T. Smith, Peter Hofsteen, Xiulan Yang, Jesse Macadangdang, Tuula Manninen, Daniel Raftery, Anup Madan, Anu Suomalainen, Deok-Ho Kim, Charles E. Murry, Oliver Fiehn, Nathan J. Sniadecki, Yuliang Wang, Hannele Ruohola-Baker
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-1 (2020)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/f7095833820746779a08b9bceffb7aec
Autor:
Anu Jalanko, Jouni Vesa, Tuula Manninen, Carina von Schantz, Helena Minye, Anna-Liisa Fabritius, Tarja Salonen, Juhani Rapola, Massimiliano Gentile, Outi Kopra, Leena Peltonen
Publikováno v:
Neurobiology of Disease, Vol 18, Iss 1, Pp 226-241 (2005)
Infantile Neuronal Ceroid Lipofuscinosis (INCL) results from mutations in the palmitoyl protein thioesterase (PPT1, CLN1) gene and is characterized by dramatic death of cortical neurons. We generated Ppt1Δex4 mice by a targeted deletion of exon 4 of
Externí odkaz:
https://doaj.org/article/9f070bfc93fe462c91c2552ca1be77fa
Autor:
Riikka Jokinen, Paula Marttinen, Helen Katarin Sandell, Tuula Manninen, Heli Teerenhovi, Timothy Wai, Daniella Teoli, J C Loredo-Osti, Eric A Shoubridge, Brendan J Battersby
Publikováno v:
PLoS Genetics, Vol 6, Iss 10, p e1001161 (2010)
Mitochondrial DNA (mtDNA) sequence variants segregate in mutation and tissue-specific manners, but the mechanisms remain unknown. The segregation pattern of pathogenic mtDNA mutations is a major determinant of the onset and severity of disease. Using
Externí odkaz:
https://doaj.org/article/8a791ce681ff425e8c8158bc237a44dd
Autor:
Shiri Levy, Yuliang Wang, Andrea Leonard, Hannele Ruohola-Baker, Elisa C. Clark, Tuula Manninen, Kevin M. Beussman, Jason W. Miklas, Deok Ho Kim, Oliver Fiehn, Nathan J. Sniadecki, Charles E. Murry, Daniel Raftery, Anup Madan, Xiulan Yang, Jesse Macadangdang, Alec S.T. Smith, Damien Detraux, Anu Suomalainen, Megan R. Showalter, Peter Hofsteen
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-21 (2019)
Nature Communications
Nature Communications, vol 10, iss 1
Nature communications, vol 10, iss 1
Nature Communications
Nature Communications, vol 10, iss 1
Nature communications, vol 10, iss 1
Mitochondrial trifunctional protein deficiency, due to mutations in hydratase subunit A (HADHA), results in sudden infant death syndrome with no cure. To reveal the disease etiology, we generated stem cell-derived cardiomyocytes from HADHA-deficient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cdc63d7fbf74e7df48ed51331e7b932
https://doaj.org/article/eb9585b9475b4ec39e5021a1cc4c96fb
https://doaj.org/article/eb9585b9475b4ec39e5021a1cc4c96fb
Autor:
Oliver Fiehn, Hannele Ruohola-Baker, Shiri Levy, Charles E. Murry, Jason W. Miklas, Yuliang Wang, Anup Madan, Kevin M. Beussman, Daniel Raftery, Nathan J. Sniadecki, Damien Detraux, Tuula Manninen, Jesse Macadangdang, Anu Suomalainen, Peter Hofsteen, Megan R. Showalter, Xiulan Yang, Deok Ho Kim, Andrea Leonard, Elisa C. Clark, Alec S.T. Smith
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-1 (2020)
Nature communications, vol 11, iss 1
Nature Communications
Nature communications, vol 11, iss 1
Nature Communications
Mitochondrial trifunctional protein deficiency, due to mutations in hydratase subunit A (HADHA), results in sudden infant death syndrome with no cure. To reveal the disease etiology, we generated stem cell-derived cardiomyocytes from HADHA-deficient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50494b74f0143f6812194d6d4b4d23a6
https://doaj.org/article/f7095833820746779a08b9bceffb7aec
https://doaj.org/article/f7095833820746779a08b9bceffb7aec
Autor:
Usama Abo Ramadan, Tuula Manninen, Esa Hohtola, Johannes Kettunen, Emmi Tikkanen, Reija Silvennoinen, Claudia P. Coomans, Leena Peltonen, Sander Kooijman, Anne M. Mäkelä, Anne Roivainen, Sjoerd A.A. van den Berg, Markus Perola, Maija Ruuth, Matti Jauhiainen, Marja-Riitta Taskinen, Antti Jula, Ilkka Seppälä, Pekka J. Karhunen, Patrick C.N. Rensen, Anu Jalanko, Miriam Lee-Rueckert, Mariëtte R. Boon, Miranda Van Eck, Christian Ehnholm, Anna Tikka, Jarkko Soronen, Krista Merikanto, Vesa M. Olkkonen, Anita M. Tuomainen, Anu Autio, Essi Kaiharju, Terho Lehtimäki, Saara Forsström, Anu Suomalainen, Ayaka Isomi, Eero Mervaala, Antti-Pekka Sarin, Ida Surakka, Veikko Salomaa, Samuli Ripatti, Jari Metso, Julia Perttilä, Aki S. Havulinna, Petri T. Kovanen, Pirkka-Pekka Laurila, Johan G. Eriksson
Publikováno v:
Science Translational Medicine, 8(323)
USF1 (upstream stimulatory factor 1) is a transcription factor associated with familial combined hyperlipidemia and coronary artery disease in humans. However, whether USF1 is beneficial or detrimental to cardiometabolic health has not been addressed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8825a94114d2774164bcd385b116a19
https://doi.org/10.1126/scitranslmed.aad0015
https://doi.org/10.1126/scitranslmed.aad0015
Autor:
Anna-Liisa Fabritius, Janna Saarela, Helena Minye, Otto P. van Diggelen, Carina von Schantz, Leena Peltonen, Anu Jalanko, Outi Kopra, Jouni Vesa, Juhani Rapola, Tuula Manninen
Publikováno v:
Human Molecular Genetics, 13(23), 2893-2906. Oxford University Press
Neuronal ceroid lipofuscinoses (NCL) comprise the most common group of childhood encephalopathies caused by mutations in eight genetic loci, CLN1-CLN8. Here, we have developed a novel mouse model for the human vLINCL (CLN5) by targeted deletion of ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc93a7ab022a112c2b2c366993a56f22
https://hdl.handle.net/1765/54224
https://hdl.handle.net/1765/54224
Autor:
Timo Otonkoski, Mikhail Kislin, Riikka H. Hämäläinen, Tuula Manninen, Hanna Koivumäki, Anu Suomalainen
Publikováno v:
Proceedings of the National Academy of Sciences
Mitochondrial DNA (mtDNA) mutations manifest with vast clinical heterogeneity. The molecular basis of this variability is mostly unknown because the lack of model systems has hampered mechanistic studies. We generated induced pluripotent stem cells f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7acb44a599e448e1c4c1bdd333bf8c92
https://pubmed.ncbi.nlm.nih.gov/24003133
https://pubmed.ncbi.nlm.nih.gov/24003133