Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Rubén Torregrosa-Muñumer"'
Autor:
Markus T. Sainio, Tiina Rasila, Svetlana M. Molchanova, Julius Järvilehto, Rubén Torregrosa-Muñumer, Sandra Harjuhaahto, Jana Pennonen, Nadine Huber, Sanna-Kaisa Herukka, Annakaisa Haapasalo, Henrik Zetterberg, Tomi Taira, Johanna Palmio, Emil Ylikallio, Henna Tyynismaa
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2022)
Neurofilament light (NFL) is one of the proteins forming multimeric neuron-specific intermediate filaments, neurofilaments, which fill the axonal cytoplasm, establish caliber growth, and provide structural support. Dominant missense mutations and rec
Externí odkaz:
https://doaj.org/article/f4541e595e534acebc0b20319f10d18f
Autor:
Sandra Harjuhaahto, Tiina S. Rasila, Svetlana M. Molchanova, Rosa Woldegebriel, Jouni Kvist, Svetlana Konovalova, Markus T. Sainio, Jana Pennonen, Rubén Torregrosa-Muñumer, Hazem Ibrahim, Timo Otonkoski, Tomi Taira, Emil Ylikallio, Henna Tyynismaa
Publikováno v:
Neurobiology of Disease, Vol 141, Iss , Pp 104940- (2020)
Mitochondrial intermembrane space proteins CHCHD2 and CHCHD10 have roles in motor neuron diseases such as amyotrophic lateral sclerosis, spinal muscular atrophy and axonal neuropathy and in Parkinson's disease. They form a complex of unknown function
Externí odkaz:
https://doaj.org/article/7dd3bc2f74c846f5b352a344121de51b
Autor:
Jeremi J Turkia, Jouni Kvist, Nadine Huber, Ras Trokovic, Vivek Sharma, Markus T. Sainio, Annakaisa Haapasalo, Jana Pennonen, Henna Tyynismaa, Emil Ylikallio, Sanna-Kaisa Herukka, Mari Auranen, Erika Rannila, Marco Reidelbach, Rubén Torregrosa-Muñumer, Sebastian Kenvin
Mutations in mitochondrial DNA encoded subunit of ATP synthase, MT-ATP6, are frequent causes of neurological mitochondrial diseases with a range of phenotypes from Leigh syndrome and NARP to ataxias and neuropathies. Here we investigated the function
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2f50f541aa9661cc3bf7d89a952c14d
http://hdl.handle.net/10138/345126
http://hdl.handle.net/10138/345126
Autor:
Markus T, Sainio, Tiina, Rasila, Svetlana M, Molchanova, Julius, Järvilehto, Rubén, Torregrosa-Muñumer, Sandra, Harjuhaahto, Jana, Pennonen, Nadine, Huber, Sanna-Kaisa, Herukka, Annakaisa, Haapasalo, Henrik, Zetterberg, Tomi, Taira, Johanna, Palmio, Emil, Ylikallio, Henna, Tyynismaa
Publikováno v:
Frontiers in cell and developmental biology. 9
Neurofilament light (NFL) is one of the proteins forming multimeric neuron-specific intermediate filaments, neurofilaments, which fill the axonal cytoplasm, establish caliber growth, and provide structural support. Dominant missense mutations and rec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4e467564e71bf755d01fe6739005a578
https://pubmed.ncbi.nlm.nih.gov/35237613
https://pubmed.ncbi.nlm.nih.gov/35237613
Purpose Aging is known to play a critical role in the etiopathogenesis of several diseases. Among them, cardiovascular disorders are especially relevant since they are becoming the first cause of death in western countries. Resveratrol is a polypheno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e16baecd08d58d982d5f53efc6eb498
http://hdl.handle.net/10138/340114
http://hdl.handle.net/10138/340114
Peripheral neuropathy linked mRNA export factor GANP reshapes gene regulation in human motor neurons
Autor:
Jouni Kvist, Henna Tyynismaa, Jemeen Sreedharan, Sanna-Kaisa Herukka, Markus T. Sainio, Satu Hänninen, Annakaisa Haapasalo, Emil Ylikallio, Rosa Woldegebriel, Matthew White, Andrew R. Bassett, Sandra Harjuhaahto, Nadine Huber, Sinkko M, Olli Carpén, Rubén Torregrosa-Muñumer
SUMMARYLoss-of-function of the mRNA export protein GANP (MCM3AP gene) cause early-onset sensorimotor neuropathy, characterised by axonal degeneration in long peripheral nerves. GANP functions as a scaffold at nuclear pore complexes, contributing to s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9c1ce0a7e31db46801d1220721d28531
https://doi.org/10.1101/2021.05.18.444636
https://doi.org/10.1101/2021.05.18.444636
Autor:
Pooja Manjunath, Jouni Kvist, Sundar Baral, Reijo Käkelä, Jayasimman Rajendran, Rubén Torregrosa-Muñumer, Henna Tyynismaa, Yang Yang, Svetlana Konovalova, Xiaonan Liu, Minna Holopainen, Pentti Somerharju, Markku Varjosalo
Cardiolipin (CL) is an essential phospholipid for mitochondrial structure and function. Here we present a small mitochondrial protein, NERCLIN, as a negative regulator of CL homeostasis and mitochondrial ultrastructure. Primate-specific NERCLIN is ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f76effa148a3c02833c3b6e140819b1
https://doi.org/10.1101/2021.01.03.424667
https://doi.org/10.1101/2021.01.03.424667
Autor:
Jana Pennonen, Markus T. Sainio, Svetlana M. Molchanova, Sandra Harjuhaahto, Jouni Kvist, Henna Tyynismaa, Tomi Taira, Emil Ylikallio, Hazem Ibrahim, Tiina S Rasila, Timo Otonkoski, Rubén Torregrosa-Muñumer, Svetlana Konovalova, Rosa Woldegebriel
Publikováno v:
Neurobiology of Disease, Vol 141, Iss, Pp 104940-(2020)
Mitochondrial intermembrane space proteins CHCHD2 and CHCHD10 have roles in motor neuron diseases such as amyotrophic lateral sclerosis, spinal muscular atrophy and axonal neuropathy and in Parkinson's disease. They form a complex of unknown function
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::191057f2ef982386dd6e451124a5528c
http://hdl.handle.net/10138/317778
http://hdl.handle.net/10138/317778
Autor:
Luis Blanco, Annika Pfeiffer, Sjoerd Wanrooij, Gorazd Stojkovič, Josefin M. E. Forslund, Natalie Al-Furoukh, Jaakko L. O. Pohjoismäki, Steffi Goffart, Gustavo Carvalho, Rubén Torregrosa-Muñumer
Publikováno v:
Proceedings of the National Academy of Sciences. 114:11398-11403
Significance Failure to maintain mtDNA integrity can lead to a wide variety of neuromuscular disorders. Despite its central role in the development of these disorders, many mechanistic details of mtDNA maintenance are still unclear. In the present wo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27e75be860438784b1a8895f41fb3c43
https://doi.org/10.1073/pnas.1705367114
https://doi.org/10.1073/pnas.1705367114
Autor:
Julia Döhla, Emilia Kuuluvainen, Nadja Gebert, Ana Amaral, Johanna I. Englund, Swetha Gopalakrishnan, Svetlana Konovalova, Anni I. Nieminen, Ella S. Salminen, Rubén Torregrosa Muñumer, Kati Ahlqvist, Yang Yang, Hien Bui, Timo Otonkoski, Reijo Käkelä, Ville Hietakangas, Henna Tyynismaa, Alessandro Ori, Pekka Katajisto
Publikováno v:
Nature cell biology. 24(2)
Metabolic characteristics of adult stem cells are distinct from their differentiated progeny, and cellular metabolism is emerging as a potential driver of cell fate conversions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2917c17fb80f90c6ffde1b90dcce8701
https://pubmed.ncbi.nlm.nih.gov/35165414
https://pubmed.ncbi.nlm.nih.gov/35165414