Zobrazeno 1 - 10
of 122
pro vyhledávání: '"Henna, Tyynismaa"'
Autor:
Jonas Van Lent, Robert Prior, Gonzalo Pérez Siles, Anthony N. Cutrupi, Marina L. Kennerson, Tim Vangansewinkel, Esther Wolfs, Bipasha Mukherjee-Clavin, Zachary Nevin, Luke Judge, Bruce Conklin, Henna Tyynismaa, Alex J. Clark, David L. Bennett, Ludo Van Den Bosch, Mario Saporta, Vincent Timmerman
Publikováno v:
Experimental and Molecular Medicine, Vol 56, Iss 6, Pp 1348-1364 (2024)
Abstract Inherited peripheral neuropathies (IPNs) are a group of diseases associated with mutations in various genes with fundamental roles in the development and function of peripheral nerves. Over the past 10 years, significant advances in identify
Externí odkaz:
https://doaj.org/article/ce0749451b9e4264b20443f390aa833e
Autor:
Nirajan Neupane, Jayasimman Rajendran, Jouni Kvist, Sandra Harjuhaahto, Bowen Hu, Veijo Kinnunen, Yang Yang, Anni I. Nieminen, Henna Tyynismaa
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-12 (2022)
Muscular pathologies, including muscular dystrophy, are caused by a number of cellular and metabolic perturbations; here, consequences of GRPEL1-null disrupted mitochondrial matrix protein import on muscle atrophy, metabolism, and stress responses ar
Externí odkaz:
https://doaj.org/article/121bc40521c0499bbf71f67b33e680f9
Autor:
Aleksi Sutinen, Giang Thi Tuyet Nguyen, Arne Raasakka, Gopinath Muruganandam, Remy Loris, Emil Ylikallio, Henna Tyynismaa, Luca Bartesaghi, Salla Ruskamo, Petri Kursula
Publikováno v:
FEBS Open Bio, Vol 12, Iss 7, Pp 1306-1324 (2022)
Charcot–Marie–Tooth disease (CMT) is the most common inherited peripheral polyneuropathy in humans, and its different subtypes are linked to mutations in dozens of different genes. Mutations in ganglioside‐induced differentiation‐associated p
Externí odkaz:
https://doaj.org/article/4e1bc0752cf64ca19c72433a691f3831
Autor:
Kristen Kurtzeborn, Hyuk Nam Kwon, Vladislav Iaroshenko, Imrul Faisal, Martin Ambrož, Xing Jin, Talha Qureshi, Jussi Kupari, Anneliis Ihermann-Hella, Juho Väänänen, Henna Tyynismaa, Iva Boušová, Sunghyouk Park, Satu Kuure
Publikováno v:
BMC Biology, Vol 20, Iss 1, Pp 1-22 (2022)
Abstract Background MAPK/ERK signaling is a well-known mediator of extracellular stimuli controlling intracellular responses to growth factors and mechanical cues. The critical requirement of MAPK/ERK signaling for embryonic stem cell maintenance is
Externí odkaz:
https://doaj.org/article/94c1978dcb1846ffb998a1dee09b40f6
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:
Julius Rönkkö, Svetlana Molchanova, Anya Revah‐Politi, Elaine M. Pereira, Mari Auranen, Jussi Toppila, Jouni Kvist, Anastasia Ludwig, Julika Neumann, Geert Bultynck, Stéphanie Humblet‐Baron, Adrian Liston, Anders Paetau, Claudio Rivera, Matthew B. Harms, Henna Tyynismaa, Emil Ylikallio
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 1962-1972 (2020)
Abstract Objective ITPR3, encoding inositol 1,4,5‐trisphosphate receptor type 3, was previously reported as a potential candidate disease gene for Charcot‐Marie‐Tooth neuropathy. Here, we present genetic and functional evidence that ITPR3 is a
Externí odkaz:
https://doaj.org/article/b677654436f5422098c6dce97f6fade5
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:
Julius Järvilehto, Sandra Harjuhaahto, Edouard Palu, Mari Auranen, Jouni Kvist, Henrik Zetterberg, Johanna Koskivuori, Marko Lehtonen, Anna Maija Saukkonen, Manu Jokela, Emil Ylikallio, Henna Tyynismaa
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
ObjectiveTo characterize serum biomarkers in mitochondrial CHCHD10-linked spinal muscular atrophy Jokela (SMAJ) type for disease monitoring and for the understanding of pathogenic mechanisms.MethodsWe collected serum samples from a cohort of 49 patie
Externí odkaz:
https://doaj.org/article/09751361605348e99fce83f29529ae93
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:
Emmanuelle C. Genin, Sylvie Bannwarth, Françoise Lespinasse, Bernardo Ortega-Vila, Konstantina Fragaki, Kie Itoh, Elodie Villa, Sandra Lacas-Gervais, Manu Jokela, Mari Auranen, Emil Ylikallio, Alessandra Mauri-Crouzet, Henna Tyynismaa, Anna Vihola, Gaelle Augé, Charlotte Cochaud, Hiromi Sesaki, Jean-Ehrland Ricci, Bjarne Udd, Cristofol Vives-Bauza, Véronique Paquis-Flucklinger
Publikováno v:
Neurobiology of Disease, Vol 119, Iss , Pp 159-171 (2018)
Following the involvement of CHCHD10 in FrontoTemporal-Dementia-Amyotrophic Lateral Sclerosis (FTD-ALS) clinical spectrum, a founder mutation (p.Gly66Val) in the same gene was identified in Finnish families with late-onset spinal motor neuronopathy (
Externí odkaz:
https://doaj.org/article/4dd012f21baf4cd2b4f522f52e36c6f3