Výsledky vyhledávání - "Emil Ylikallio"

Akademický článek

Lowered oxidative capacity in spinal muscular atrophy, Jokela type; comparison with mitochondrial muscle disease

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

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Akademický článek

Structural insights into Charcot–Marie–Tooth disease‐linked mutations in human GDAP1

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

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Akademický článek

Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

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

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Akademický článek

Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor Neurons

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

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Akademický článek

Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy

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

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Akademický článek

ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons

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

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